RESUMEN
BACKGROUND: Inherited macular dystrophies constitute a group of diseases characterized by bilateral central visual loss with symmetrical macular abnormalities usually presenting in the first two decades of life. The aim of this study were to find out the demographic characteristics and disease pattern of inherited retinal dystrophies in subjects attending retina outpatient department in a tertiary care center. METHODS: An observational study among twenty-six participants diagnosed as macular dystrophy visiting a tertiary care centre in Nepal, during January 2018 to June 2018 were included in the study. Detailed history, slit lamp examination, dilated fundus examination, coloured fundus photography, full field electroretinogram, multifocal electroretinogram, automated visual field and colour vision were done. RESULTS: A total of 52 eyes of 26 subjects were diagnosed with macular dystrophy. The male to female ratio was 1:1. The mean age of presentation was 28.38 years. Most common symptom was blurring of vision seen in 96.15%.The mean visual acuity was 0.67 log mar units in right eye and 0.71 log mar units in the left eye. The most common macular dystrophy was cone dystrophy followed by adult vitelliform macular dystrophy and Stargardts dystrophy. CONCLUSIONS: Cone dystrophy is the most common followed by Stargardt's disease and adult vitelliform macular dystrophy. Most presented in the first two decades of life and the most common presenting symptom was blurring of vision.
Asunto(s)
Centros de Atención Terciaria , Distrofia Macular Viteliforme/diagnóstico , Distrofia Macular Viteliforme/genética , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Nepal , Distrofia Macular Viteliforme/fisiopatología , Adulto JovenRESUMEN
Purpose: This report describes a case of bilateral macular holes (MHs) in adult vitelliform macular dystrophy (AVMD). Methods: A retrospective case report of a patient with AVMD and sequential onset of bilateral MHs is presented. Results: Bilateral MHs were observed after vitreomacular traction was identified on optical coherence tomography. Holes in both eyes were repaired with pars plana vitrectomy (PPV) with C3F8 (perfluoropropane) gas tamponade; only the right eye underwent internal limiting membrane peeling. In the right eye, 2 PPVs were required for hole closure. In both eyes, long-term atrophy of the retina and retinal pigment epithelium was observed. Conclusions: MHs in AVMD may be preceded by vitreomacular traction. Surgical repair with PPV and gas tamponade was successful. Retinal and retinal pigment epithelium atrophy developed postoperatively, but the patient's vision still improved.