Hereditary fundus and macular dystrophies

Multi-disciplinary care

Founded in 1994, the Genetics consultation in the Ophthalmology Department was quickly transformed into a referral center for retinal diseases of genetic origin. This consultation is labeled Centre de Reference des Maladies Rares since 2006, in collaboration with the Centre Hospitalier National des Quinze-Vingts, in the national Rare Diseases plan.

This consultation is designed for multi-disciplinary management of hereditary fundus and macular dystrophies. A special phone line is dedicated to this activity: 01 41 78 42 05.

Additional information is available on the website of CHI Creteil.

Some very heterogeneous diseases

Hereditary fundus dystrophies are a group of heterogeneous disorders, with a prevalence of approximately 1 : 3500 individuals in the French population. They are, therefore, rare diseases.

Fundus dystrophies affect the entire retinal tissue. Retinitis pigmentosa is the most commonly encountered hereditary fundus dystrophy. Many other hereditary fundus diseases are seen within the scope of this consultation, such as choroideremia, gyrate atrophy and ocular albinism.

Retinitis pigmentosa
Retinitis pigmentosa (fundus photograph)

Hereditary macular dystrophies exclusively or preferentially affect macular tissue. They are a very heterogeneous set of conditions, including Stargardt disease, fundus flavimaculatus, juvenile Best macular dystrophy, vitelliform dystrophy, progressive cone dystrophy, pattern dystrophy, Sorsby pseudo inflammatory dystrophy, juvenile X-linked retinoschisis, familial dominant drusen.

A profound clinical examination that takes into account morphological characteristics and functional tests will help in distinguishing these disease.

Stargardt Macular Dystrophy : fluorescein angiographic aspect
Stargardt Macular Dystrophy : fluorescein angiographic aspect
Pattern Dystrophy : on the left Fundus Autofluorescence aspect, on the right fluorescein angiographic aspect
Pattern Dystrophy : on the left Fundus Autofluorescence aspect, on the right fluorescein angiographic aspect

Last page modification : 2 Sep 2013