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RTN4IP1-associated non-syndromic optic neuropathy and rod-cone dystrophy.
Gupta, Priya R; O'Connell, Kaitlin; Sullivan, Jack M; Huckfeldt, Rachel M.
Afiliación
  • Gupta PR; Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA.
  • O'Connell K; Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA.
  • Sullivan JM; Ira G. Ross Eye Institute (Department of Ophthalmology), Jacobs School of Medicine and Biomedical Sciences, University of Buffalo, Buffalo, New York, USA.
  • Huckfeldt RM; Department of Ophthalmology, VA Western NY Healthcare System, Buffalo, New York, USA.
Ophthalmic Genet ; 45(3): 289-293, 2024 Jun.
Article en En | MEDLINE | ID: mdl-38224077
ABSTRACT

BACKGROUND:

Biallelic variants in RTN4IP1 are a well-established cause of syndromic and nonsyndromic early-onset autosomal recessive optic neuropathy. They have more recently been reported to cause a concomitant but later-onset rod-cone dystrophy with or without syndromic features.

METHODS:

A comprehensive evaluation was performed that included assessment of visual and retinal function, clinical examination, and retinal imaging. Childhood ophthalmic records as well as the results of genetic testing were evaluated.

RESULTS:

A 24-year-old female described longstanding reduced visual acuity with more recent subjective impairment of dark adaptation. Visual acuity was subnormal in both eyes. Goldmann kinetic perimetry demonstrated scotomas in a pattern consistent with the presence of both optic neuropathy and rod-cone dystrophy with fundus exam as well as retinal imaging showing corroborating findings. Full-field electroretinography further confirmed the presence of a rod-cone dystrophy. Genetic testing demonstrated biallelic variants in RTN4IP1, one of which was novel, in association with the ocular findings.

CONCLUSIONS:

RTN4IP1-associated early-onset bilateral optic neuropathy with rod-cone dystrophy is a recently described clinical entity with limited reports available to-date. The present case provides additional support for this dual phenotype and identifies a novel causative variant.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Nervio Óptico / Electrorretinografía / Distrofias de Conos y Bastones Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Nervio Óptico / Electrorretinografía / Distrofias de Conos y Bastones Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido