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BACKGROUND: Atopic dermatitis (AD) is the most common inflammatory skin condition which affects all ages. New therapies, including the monoclonal antibody therapy dupilumab, offer excellent efficacy. However, in clinical trials, and emphasised in real-world observations, the unexpected increased frequency of ocular adverse effects became apparent. The effectiveness of dupilumab and the unpredictability of ocular adverse effects mean that clinicians need guidance on counselling patients prior to treatment and on managing them if they arise. OBJECTIVES: The British Association of Dermatologists (BAD) and Royal College of Ophthalmologists collaborated on this consensus guidance on managing dupilumab-related ocular surface disorders (DROSD). METHODS: A multidisciplinary group was formed of adult and paediatric dermatologists and ophthalmologists with DROSD expertise, patient representation, and BAD Clinical Standards Unit. A literature search was conducted, and the results reviewed. All recommendations were reviewed, discussed and voted on. RESULTS: The recommendations pertain to dermatology and ophthalmology management, and apply to all ages, unless otherwise stated. Importantly, initiation of dupilumab for AD should not be delayed for most eye disorders except acute new problems, e.g. infections, or potentially severe conditions, e.g. a history of corneal transplant (ophthalmology advice should be sought first). There is insufficient evidence to recommend lubricant drops prophylactically. Dermatologists should assess eye complaints to diagnose DROSD; a severity grading system is provided. DROSD management differs slightly in those aged <7 years as ocular complications may affect neuro-ocular development; therefore, irrespective of DROSD severity, this population should be referred for ophthalmology advice. In those aged ≥7 years, dermatologists should feel confident to trial treatment and reserve ophthalmology advice for severe or non-responding cases. Discussion about dupilumab withdrawal should be prompted by a significant impact on quality of life, threat to sight, or other complications. CONCLUSIONS: Although dupilumab is a highly effective agent for treating AD, the risk of ocular adverse effects should not inhibit clinicians or patients from using it, but clinicians should be aware of them. If a patient develops DROSD, there are clear pathways to assess severity and offer initial management; where ineffective, dermatologists should assess the urgency and seek advice from or initiate referral to ophthalmology. While the evidence reviewed for these guidelines reflects the extensive literature on dupilumab, we believe our advice has relevance for ocular surface disorders in atopic dermatitis (AD) patients treated with tralokinumab and lebrikizumab.

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OBJECTIVE: To evaluate optic nerve head morphology in children with craniosynostosis versus healthy controls. DESIGN: Single-centre, prospective cohort study METHODS: Handheld optical coherence tomography (OCT) was performed in 110 eyes of 58 children (aged 0-13 years) with craniosynostosis. Inclusion criteria were as follows: normal intracranial pressure (ICP) on invasive overnight monitoring, or clinically stable ICP. The latter was defined as stable VA within 1 logMAR line and no papilloedema on fundoscopy for at least four months following OCT, and normal/stable visual evoked potentials. Control data for 218 eyes of 218 children were obtained from a published normative dataset. The main outcome measures were disc width, cup width, rim width and retinal nerve fibre layer (RNFL) thickness (nasal and temporal). Outcome measures were compared using three-way linear mixed model regression analysis (FGFR 1/2-associated craniosynostosis, non-FGFR 1/2-associated craniosynostosis, and controls). RESULTS: Out of 63 eligible children with craniosynostosis, handheld OCT imaging was successful in 110 eyes of 58 children (92%). Of these, 22 (38%) were female. Median subject age at OCT examination was 53 months (range: 2 to 157; IQR: 39 to 73). Twelve children (21%) had FGFR1/2-associated syndromes (Crouzon, n=6; Apert, n=4; Pfeiffer, n=2). Control data were available for 218 eyes of 218 healthy children. 122 controls (56%) were female. Median control age at OCT examination was 20 months (range: 0 to 163; IQR: 6 to 59). When comparing optic nerve head morphology in craniosynostosis (n=58) versus controls (n=218), disc width was 6% greater (p=0.001), temporal cup width was 13% smaller (p=0.027), rim width was 16% greater (p<0.001) and temporal RNFL was 11% smaller (p=0.027). When comparing FGFR1/2-associated syndromes (Crouzon, Apert and Pfeiffer syndromes, n=12) to the rest of the craniosynostosis group (n=46), disc width was 10% smaller (p=0.014) and temporal cup width was 38% smaller (p=0.044). CONCLUSIONS: This cohort demonstrated morphological differences of the optic nerve head in craniosynostosis, most markedly in Crouzon, Apert and Pfeiffer syndromes. These findings could help improve ophthalmological monitoring and surgical decision-making in children with craniosynostosis. Further work on longitudinal optic nerve head changes in syndromic and non-syndromic craniosynostosis would be valuable.

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In this article, we will discuss the essential MR imaging protocol required for the assessment of ocular abnormalities including malignancies. Then we will describe relevant anatomy, ocular embryogenesis, and genetics to establish a profound understanding of pathophysiology of the congenital ocular malformations. Finally, we will discuss pediatric ocular malignancies, benign mimics, and the most common congenital ocular malformations with case examples and illustrations and give tips on how to distinguish these entities on neuroimaging.

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Desarrollo Embrionario , Neuroimagen , Niño , Humanos

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In this article, we will describe relevant anatomy and imaging findings of extraocular and orbital rim pathologic conditions. We will highlight important clinical and imaging pearls that help in differentiating these lesions from one another, and provide a few practical tips for challenging cases.

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BACKGROUND/AIMS: Microphthalmia and anophthalmia are rare conditions, which represent ocular maldevelopment; both may be associated with orbital cysts. Current literature recommends retention to stimulate orbital growth during socket rehabilitation but does not illustrate their potential to deform the periocular tissues. This study aims to illustrate the long-term outcomes when other elements, such as forniceal and lid development, are also considered when formulating bespoke treatment plans for patients. METHODS: Retrospective case series of 78 patients attending a single prosthetics clinic between 1988 and 2020. Clinical and surgical notes, radiological imaging, clinical photographs and patient/doctor satisfaction questionnaires were used to report patient outcomes and natural history data. RESULTS: 89 sockets of 78 patients (11 bilateral) were included; average age of presentation being 2.8 years (9 days to 29.5 years). Cysts were clinically detected (48%) or were incidental findings (52%). The mean follow-up time was 7.2 years (6 months to 28 years). Cysts in 46% of sockets underwent surgical excision while the remainder were retained. Satisfaction surveys were obtained for 75 patients, with cosmetic outcomes rated as 'excellent' or 'good' in 90% of cases by physicians and 97% of cases by patients or guardians. CONCLUSION: The favourable long-term outcomes in this study have resulted from bespoke plans which considered periocular tissue development, regional orbital growth and orbital volume replacement. The authors contemplate cyst excision if the prosthetic fitting or retention is impeded by the cyst as this often heralds the increased risk of long-term periocular distortion.

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Anoftalmos , Quistes , Microftalmía , Humanos , Preescolar , Anoftalmos/cirugía , Microftalmía/cirugía , Microftalmía/complicaciones , Estudios Retrospectivos , Ojo , Quistes/diagnóstico , Quistes/cirugía , Órbita/cirugía

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BACKGROUND/AIMS: Microphthalmia, anophthalmia and coloboma (MAC) are clinically and genetically heterogenous rare developmental eye conditions, which contribute to a significant proportion of childhood blindness worldwide. Clear understanding of MAC aetiology and comorbidities is essential to providing patients with appropriate care. However, current management is unstandardised and molecular diagnostic rates remain low, particularly in those with unilateral presentation. To further understanding of clinical and genetic management of patients with MAC, we charted their real-world experience to ascertain optimal management pathways and yield from molecular analysis. METHODS: A prospective cohort study of consecutive patients with MAC referred to the ocular genetics service at Moorfields Eye Hospital between 2017-2020. RESULTS: Clinical analysis of 50 MAC patients (15 microphthalmia; 2 anophthalmia; 11 coloboma; and 22 mixed) from 44 unrelated families found 44% had additional ocular features (complex) and 34% had systemic involvement, most frequently intellectual/developmental delay (8/17). Molecular analysis of 39 families using targeted gene panels, whole genome sequencing and microarray comparative genomic hybridisation identified genetic causes in, 28% including novel variants in six known MAC genes (SOX2, KMT2D, MAB21L2, ALDH1A3, BCOR and FOXE3), and a molecular diagnostic rate of 33% for both bilateral and unilateral cohorts. New phenotypic associations were found for FOXE3 (bilateral sensorineural hearing loss) and MAB21L2 (unilateral microphthalmia). CONCLUSION: This study highlights the importance of thorough clinical and molecular phenotyping of MAC patients to provide appropriate multidisciplinary care. Routine genetic testing for both unilateral and bilateral cases in the clinic may increase diagnostic rates in the future, helping elucidate genotype-phenotype correlations and informing genetic counselling.

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Anoftalmos , Coloboma , Anomalías del Ojo , Microftalmía , Humanos , Anoftalmos/diagnóstico , Anoftalmos/genética , Anoftalmos/terapia , Microftalmía/diagnóstico , Microftalmía/genética , Microftalmía/terapia , Coloboma/diagnóstico , Coloboma/genética , Estudios Prospectivos , Anomalías del Ojo/diagnóstico , Proteínas del Ojo/genética , Péptidos y Proteínas de Señalización Intracelular

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Congenital orbital teratomas are rare entities with few case reports detailing their prenatal and perinatal imaging features. We present the case of a congenital orbital teratoma initially detected as cystic lesion on prenatal ultrasound, with foetal and postnatal imaging showing evolution of characteristic MRI appearances. Knowledge of these appearances and the ability to diagnose these rare entities in foetal life can aid management and operative planning in the immediate postnatal period.

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Teratoma , Femenino , Embarazo , Humanos , Teratoma/diagnóstico por imagen , Teratoma/cirugía , Presentación en Trabajo de Parto , Imagen por Resonancia Magnética/métodos , Atención Prenatal

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Craniopagus conjoined twins are extraordinarily rare and present unique challenges to the multidisciplinary team. There is a paucity of literature on optimizing neuro-ophthalmologic evaluation in craniopagus twins. Herein, we present our enhanced neuro-ophthalmologic evaluation and management in 17-month-old male craniopagus twins, uniquely using handheld optical coherence tomography (OCT) plus portable slit-lamp biomicroscopy, indirect ophthalmoscopy and modified forced-choice preferential looking assessment. Staged surgical separation was supported by enhanced neuro-ophthalmologic evaluation, detailed radiology, three-dimensional printing and virtual reality simulation. This represents the fourth separation of craniopagus twins by our unit.

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PURPOSE: To describe the trans-occipital asymmetries of pattern and flash visual evoked potentials (VEPs), in an infant with MRI findings of unilateral optic nerve aplasia and hemi-chiasm dysplasia. METHODS: A child with suspected left cystic microphthalmia, left microcornea, left unilateral optic nerve aplasia, and hemi-chiasm underwent a multi-channel VEP assessment with pattern reversal, pattern onset, and flash stimulation at the age of 16 weeks. RESULTS: There was no VEP evidence of any post-retinal visual pathway activation from left eye with optic nerve aplasia. The VEP trans-occipital distribution from the functional right eye was skewed markedly across the midline, in keeping with significant misrouting of optic nerve fibres at the chiasm. This was supported by the anatomical trajectory of the optic chiasm and tracts seen on MRI. CONCLUSION: This infant has chiasmal misrouting in association with unilateral optic nerve aplasia and unilateral microphthalmos. Chiasmal misrouting has not been found in patients with microphthalmos or anophthalmos, but has been reported after early eye loss in animal models. Our findings contribute to our understanding of the discrepancy between the visual pathway physiology of human unilateral microphthalmia and animal models.

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Quiasma Óptico , Enfermedades del Nervio Óptico , Electrorretinografía , Potenciales Evocados Visuales , Humanos , Lactante , Quiasma Óptico/diagnóstico por imagen , Nervio Óptico/diagnóstico por imagen , Enfermedades del Nervio Óptico/diagnóstico

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BACKGROUND: Midface augmentation and orbital surgery carry an inherent risk of injury to the infraorbital vascular bundle, especially the infraorbital nerve where it exits the infraorbital foramen (IOF). This can result in significant morbidity for the patient, including paresthesia and neuralgia. Studies report significant heterogeneity in IOF position according to gender, ethnicity, and laterality. A knowledge of the relationship of the IOF to regional soft tissue, bony landmarks, and its variation among ethnicities is likely to reduce iatrogenic injuries. METHODS: A single-center retrospective computed tomography (CT)-based study was conducted. Twenty Caucasians and 20 Black Africans patients were selected from an existing radiologic database at Moorfields Eye Hospital, London, UK. DICOM image viewing software (Syngo, Siemens Healthineers) was used to record the position of the IOF using standardized sagittal and axial views. RESULTS: There was a statistically significant difference in the horizontal position of the IOF in the 2 races (P = 0.00). The combined measurements were used to derive a rectangular zone of variability measuring 14.30 mm by 10.60 mm. This zone was found to lie 3.50 mm below the infraorbital rim, 7.10 mm medial to the piriform aperture, and 11.60 mm from the lateral orbital rim. CONCLUSION: A sound knowledge of key facial landmarks is necessitated when performing midface augmentation and orbital surgery. An anatomical safe zone depicting the variation of the IOF will help reduce iatrogenic injury to the infraorbital nerve and prevent patient morbidity.

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Maxilar , Órbita , Población Negra , Humanos , Maxilar/anatomía & histología , Órbita/anatomía & histología , Órbita/cirugía , Estudios Retrospectivos , Reino Unido

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PURPOSE: To ascertain long-term outcome of treatment for primary epithelial malignancies of the lacrimal gland and compare outcomes after cranio-orbital resection or after macroscopic tumor resection with radiotherapy. METHODS: Comparative case series of 79 patients (49 male; 62%) treated for primary epithelial malignancies of the lacrimal gland at Moorfields Eye Hospital between 1972 and 2014. Patients were identified from clinical and pathological databases and, where available, the clinical, pathological, and imaging records reviewed. The primary outcome measures were overall survival after diagnosis, disease-free survival, and final visual acuity for patients having cranio-orbital resection (exenteration plus local bone removal), compared with macroscopic tumor resection plus radiotherapy. RESULTS: The mean age at presentation was 48 years (median: 50 years; range: 13-84 years), with 53 (67%) having adenoid cystic carcinoma, 15 (19%), primary adenocarcinoma, and 11 (14%) carcinoma ex-pleomorphic adenoma (malignant mixed tumor). The overall survival probability of the cohort (79 patients) was 0.59 at 5 years and 0.52 at 10 years, with 36/79 (46%) patients suffering tumor-related deaths; 14 patients died from other causes, and 4 patients were lost to follow up after the minimum follow-up period. The probability of disease-free survival at 5 years for patients with adenoid cystic carcinoma, adenocarcinoma, and malignant mixed tumor was 0.52, 0.4, and 0.64, respectively, with the comparable figures at 10 years being 0.44, 0.40, and 0.64. Most importantly, the 9 patients undergoing cranio-orbital resection and the 44 having solely macroscopic tumor resection plus radiotherapy had similar overall survival (p = 0.59) and disease-free survival (p = 0.89). Subgroup analysis of the 2 treatment modalities for patients with adenoid cystic carcinoma (8 cranio-orbital resection and 32 debulking and radiotherapy) demonstrated similar results for disease-free survival (p = 0.87). Likewise, there were no significant differences between rates of recurrences between the 2 different treatments. For the 50 patients who had eye-preserving surgery and long-term visual acuity data, the final acuity was better or equal to 0.6 logMAR (6/24 Snellen) in 25 (50%). DISCUSSION: There is no difference in either survival or tumor recurrence for lacrimal gland carcinoma treated with cranio-orbital resection, or eye-preserving tumor excision and radiotherapy. The authors, therefore, continue to advocate local resection and radiotherapy for almost all patients with primary epithelial malignancies of the lacrimal gland-this treatment having lower morbidity, causing less disfigurement, and, importantly, preserving useful vision in most patients.

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Enfermedades del Aparato Lagrimal/cirugía , Aparato Lagrimal/cirugía , Procedimientos Quirúrgicos Oftalmológicos/métodos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Estudios de Seguimiento , Humanos , Enfermedades del Aparato Lagrimal/diagnóstico , Enfermedades del Aparato Lagrimal/mortalidad , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Tasa de Supervivencia/tendencias , Resultado del Tratamiento , Reino Unido/epidemiología , Adulto Joven

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PURPOSE: To review the long-term corneal complications after high-dose external beam orbital radiotherapy given to patients for lacrimal gland carcinomas. The impact of prophylactic measures to improve long-term ocular surface health is also assessed. DESIGN: Retrospective case series. PARTICIPANTS: Patients under the care of Moorfields Eye Hospital and receiving external beam radiotherapy for primary epithelial lacrimal gland carcinoma between 1975 and 2014. METHODS: Retrospective review of ophthalmic case notes at Moorfields Eye Hospital, and oncology and general physician records. MAIN OUTCOME MEASURES: The occurrence of corneal perforation, and time to perforation. RESULTS: Sixty-seven patients were included in this study, of whom nine (13%) developed corneal perforation at a median time of 10.4 months after radiotherapy (mean 35; range 3.2 months to 14.5 years); the majority (7/9; 78%) perforated within 36 months of radiotherapy. The mean follow-up interval of the whole cohort was 8.2 years (median 4.6; range, 2 months to 30.7 years). CONCLUSIONS: Although most patients with globe-sparing treatment of lacrimal gland carcinoma did not suffer corneal perforation, they usually require long-term therapy to maintain the ocular surface. The high-dose external beam radiotherapy needed for lacrimal gland carcinoma can produce significant ocular surface morbidity, and the 13% incidence of corneal perforation was greatest in the first 3 years after irradiation.

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Enfermedades de la Córnea/etiología , Neoplasias del Ojo/radioterapia , Enfermedades del Aparato Lagrimal/radioterapia , Órbita/efectos de la radiación , Traumatismos por Radiación/etiología , Radioterapia de Alta Energía/efectos adversos , Adenocarcinoma/radioterapia , Adenoma Pleomórfico/radioterapia , Adulto , Anciano , Carcinoma Adenoide Quístico/radioterapia , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Dosificación Radioterapéutica , Estudios Retrospectivos , Factores de Tiempo

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Blepharoplasty is amongst the more frequently performed aesthetic procedures with surgery performed by physicians and surgeons across a variety of sub-specialities. This paper, aimed at a dermatology audience, describes patient selection, eyelid anatomy, clinical examination and surgical steps to achieve successful upper and lower lid blepharoplasty outcomes. Recommendations for minimising complications are made and photographs used to illustrate important clinical and surgical features.

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PURPOSE: To compare, in black Africans and Caucasians, the radiological anatomy of the intranasal structures and lacrimal sac fossa as relevant to dacryocystorhinostomy. METHODS: 0.75 mm section cranio-orbital computed tomography scans from 72 patients (42 black Africans and 30 Caucasian) were included in this retrospective observational case series. Only one orbit from each scan was utilized. The main outcome measures were: the thickness and proportions of the lacrimal bone and frontal process of the maxilla evaluated at 3 axial planes (upper, middle, lower) in the lacrimal sac fossa; 2 measurements of maxillary thickness were obtained at each plane-namely, the "midpoint thickness" and the "maximum thickness." The anterior extent of the nasal mucosa was also evaluated. RESULTS: The frontal process of the maxilla was thickest inferiorly (p < 0.001) and the maximum maxillary thickness was significantly thicker in black Africans as compared with Caucasians (p < 0.001) at all planes. At midfossa level, the proportion of maxillary bone forming the lacrimal fossa wall was significantly greater in black Africans (p < 0.01). In contrast, the length of nasal mucosa available for creation of an anastomosis, as estimated from the greatest mucosal height, was significantly greater in Caucasians (p < 0.01). CONCLUSIONS: Black Africans have a lacrimal sac fossa bounded by thicker maxillary bone, this bone constituting a higher proportion of the fossa wall at its midpoint, and also have significantly less nasal mucosa available for soft-tissue anastomosis during lacrimal drainage surgery. The anterior lacrimal crest, comprising the frontal process of the maxilla, was thickest at the lowest plane in both black Africans and Caucasians.

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Población Negra , Maxilar/diagnóstico por imagen , Conducto Nasolagrimal/diagnóstico por imagen , Órbita/diagnóstico por imagen , Población Blanca , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mucosa Nasal/anatomía & histología , Estudios Retrospectivos , Tomografía Computarizada por Rayos X

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The purpose of this study is to describe the functional and anatomical outcomes of cytomegaloviral retinitis (CMVR) patients undergoing vitrectomy for retinal detachment (RD) in South Africa. In this retrospective case series, CMVR diagnoses were based on clinical examination alone. All vitrectomies were performed by a single surgeon. Main outcome measures were visual acuity (VA) and retinal re-attachment success rate. Thirty-nine patients (43 eyes) were followed up from the time of RD diagnosis for a mean 19.3 months ± 13.8 (standard deviation). Successful anatomical re-attachment was achieved in 38 (88 %) eyes. Silicone oil was used as initial tamponade in 39 eyes, with C3F8 being used in the remaining four (9 %) eyes with ≤2 small retinal breaks. The presence of high-grade proliferative vitreoretinopathy (n = 11 eyes, 26 %) was not associated with a greater risk of re-detachment (p = 0.24, Fisher's exact test). Functional outcomes were limited, with an overall rate of legal blindness (≤6/60) from the time of RD diagnosis of 0.58/eye year. Final VA strongly correlated with VA at the time of RD diagnosis (p = 0.018, paired t test). Two eyes (5 %) lost perception of light during the study period. Severe visual impairment is likely following CMVR-related RD in a developing world healthcare setting, despite successful anatomical re-attachment in most cases.

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Retinitis por Citomegalovirus/complicaciones , Desprendimiento de Retina/cirugía , Vitrectomía , Adulto , Países en Desarrollo , Femenino , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Evaluación de Resultado en la Atención de Salud , Recurrencia , Desprendimiento de Retina/etiología , Desprendimiento de Retina/fisiopatología , Estudios Retrospectivos , Sudáfrica , Agudeza Visual/fisiología

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OBJECTIVE: To describe the functional and anatomic outcomes of progressive outer retinal necrosis treated with intravitreal ganciclovir sodium injections. METHODS: A retrospective, interventional case series of all patients fitting established clinical diagnostic criteria for progressive outer retinal necrosis was conducted at a single institution in South Africa. Eyes with salvageable vision were treated with repeated intravitreal ganciclovir injections until regression was achieved or the eye lost light perception. Pars plana vitrectomy was performed when retinal detachments failed to resolve spontaneously. The main outcome measures were visual acuity (VA) and response to intravitreal ganciclovir. RESULTS: Thirty-nine patients (67 eyes), all of whom were HIV-positive (median CD4+ T-lymphocyte count, 30/µL), were included; 12 patients (31%) died during the study period. Twenty-eight of 36 patients (78%) had a recent history of cutaneous varicella zoster virus infection. At the initial evaluation, the mean VA was 6/120, with 12 eyes (18%) having already lost perception of light. Intravitreal ganciclovir injections were started immediately in all salvageable eyes (n = 50). Improvements in visual outcomes trended toward significance in eyes responding early (≤21 days), achieving a median final VA of 6/36 (P = .046). Retinal detachment occurred in 34 eyes (51%), predicating a significantly worse visual outcome (P < .001). Excluding eyes with no light perception at the start of the study period, median final VA was hand movements (range, 6/4 to no light perception); 9 eyes lost perception of light despite treatment. CONCLUSIONS: Progressive outer retinal necrosis remains a devastating condition, often with acute and profound loss of vision. Intravitreal ganciclovir may offer a more targeted approach and, compared with earlier reports using systemic therapy alone, may result in better visual outcomes.

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Antivirales/uso terapéutico , Ganciclovir/uso terapéutico , Herpes Simple/tratamiento farmacológico , Herpes Zóster Oftálmico/tratamiento farmacológico , Síndrome de Necrosis Retiniana Aguda/tratamiento farmacológico , Adulto , Terapia Antirretroviral Altamente Activa , Antivirales/administración & dosificación , Recuento de Linfocito CD4 , Progresión de la Enfermedad , Femenino , Ganciclovir/administración & dosificación , Seropositividad para VIH/tratamiento farmacológico , Seropositividad para VIH/fisiopatología , Herpes Simple/fisiopatología , Herpes Simple/virología , Herpes Zóster Oftálmico/fisiopatología , Herpes Zóster Oftálmico/virología , Humanos , Inyecciones Intravítreas , Masculino , Persona de Mediana Edad , Desprendimiento de Retina/etiología , Síndrome de Necrosis Retiniana Aguda/fisiopatología , Síndrome de Necrosis Retiniana Aguda/virología , Estudios Retrospectivos , Resultado del Tratamiento , Agudeza Visual/fisiología , Vitrectomía

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PURPOSE: To describe the clinical phenotype and electroretinographic changes in two siblings with primary hereditary lateral sclerosis. MATERIALS AND METHODS: Case series of two male siblings from a consanguineous family. A clinical evaluation and full field electroretinography according to International Society for Clinical Electrophysiology of Vision (ISCEV) standards was performed. RESULTS: Both siblings had reduced central vision without nystagmus and a normal fundus examination. The electroretinogram showed cone dysfunction with markedly reduced amplitude 30-Hz flicker, and broad, delayed photopic single flash of normal amplitude. The rod driven electroretinography (ERG) b-waves were within the normal range. CONCLUSIONS: Cone dysfunction has not been reported previously in patients with primary lateral sclerosis. Although it is possible this is a chance association it is more likely that the retinal dysfunction is caused by the same genetic mutation causing the neurological disease. Investigation of other cases will be helpful in delineating the phenotype. The association may also help prioritize candidate gene analysis in the search for the underlying genetic mutation causing primary lateral sclerosis.

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Enfermedad de la Neurona Motora/genética , Células Fotorreceptoras Retinianas Conos/patología , Enfermedades de la Retina/genética , Adolescente , Niño , Visión de Colores/fisiología , Consanguinidad , Electrorretinografía , Humanos , Masculino , Enfermedad de la Neurona Motora/fisiopatología , Enfermedades de la Retina/fisiopatología , Hermanos , Agudeza Visual/fisiología