Hereditary retinal degenerations and dystrophies


A multi-disciplinary care

Founded in 1994, the consultations of ‘’genetic ophthalmology’’ quickly turned his orientation towards retinal diseases of genetic origin. This consultation has been labeled Centre de Référence Maladies Rares since 2006, in collaboration with the Quinze-Vingts Hospital, as part of the national Rare Diseases plan. and within the Referet framework. The CHIC ophthalmic rare diseases center is also part of the SENSGENE.

This consultation aims at a multi-disciplinary management of hereditary retinal dystrophies. The ophthalmological consultation is carried out by a specialist in rare retinal diseases. There is also the possibility of psychological interview, and a consultation of medical genetics is provided by Dr Kaplan. Moreover, a dedicated telephone line is committed to this activity: 01 45 17 52 34.

This consultation is designed for multi-disciplinary management of hereditary fundus and macular dystrophies.

A very heterogeneous group of diseases

Hereditary fundus dystrophies are a group of heterogeneous disorders, with a prevalence of approximately 1:3,500 individuals in the French population and about 40,000 patients in France. They are therefore named rare diseases.

Retinitis pigmentosa (fundus photograph)

The most frequent disease is Retinis Pigmentosa.

Fundus dystrophies affect the entire retinal tissue. In addition to Retinitis Pigmentosa, other dystrophies like choroideremia, Gyrate atrophy, ocular albinism and mitochondrial and metabolic diseases are also an impressive part of our clinical effort.

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

An assessment based on morphological characteristics and functional tests will make it possible to distinguish these diseases.

Stargardt Macular dystrophy: fluorescein angiography appearance

Best macular distrophy: Color Fundus photo and Funfus AutoFluorescence

You can make an appointment with one of the Ophthalmologists of the department who provide specific care dedicated to this pathology:

Dr Olivia ZambrowskiStaff Physician

Department: Doctor
Specialty: AMD, Cataract surgery, Electrophysiology, General Ophthalmology, Hereditary macular dystrophies
Specialty: AMD, Angioid streaks, Cataract surgery, Diabetic retinopathy, General Ophthalmology, Hereditary macular dystrophies, Ophthalmic Echography, Retinal venous occlusive disease, Vitreoretinal surgery

Dr Jean-Louis BacquetUniversity Fellow

Department: Doctor
Specialty: AMD, Cataract surgery, Diabetic retinopathy, General Ophthalmology, Glaucoma, Hereditary macular dystrophies, Neuro-ophthalmology, Retinal venous occlusive disease, Uveitis, Vitreoretinal surgery

Dr Alexandra Mouallem-BeziereUniversity Fellow

Specialty: AMD, Angioid streaks, Cataract surgery, Diabetic retinopathy, General Ophthalmology, Hereditary macular dystrophies, Retinal venous occlusive disease, Vitreoretinal surgery