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Published on: July 14, 2016
Clinical features and linkage analysis for a Chinese family with autosomal dominant central areolar choroidal
Kai Ma1, Xiu-fen Yang, Cui Han
1Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China.
Insights
This study investigated a Chinese family with autosomal dominant central areolar choroidal dystrophy (CACD). Genetic analysis excluded known genes, suggesting genetic heterogeneity for this rare eye disease.
Area of Science:
- Ophthalmology
- Medical Genetics
- Human Disease Genetics
Background:
- Identified a Chinese family with autosomal dominant central areolar choroidal dystrophy (CACD).
- CACD is a rare inherited retinal disorder.
- Understanding the genetic basis of CACD is crucial for diagnosis and potential therapies.
Purpose of the Study:
- To clinically characterize a Chinese family affected by autosomal dominant CACD.
- To identify the underlying genetic cause of CACD in this family through linkage analysis.
Main Methods:
- Conducted comprehensive ophthalmologic examinations on 43 individuals across three generations.
- Performed genetic linkage analysis using microsatellite markers on DNA samples.
- Excluded eight candidate genes and two genetic loci known to be associated with retinal dystrophies.
Main Results:
- Diagnosed seven family members with autosomal dominant CACD, exhibiting progressive disease and phenotypic variability.
- Observed varying onset of visual disturbances (11-50 years) and fundus findings from pigment mottling to geographic atrophy.
- Fluorescein angiography revealed characteristic parafoveal changes and chorioretinal atrophy.
Conclusions:
- Clinical presentation of CACD in this Chinese family is consistent with previously reported cases in other ethnicities.
- Linkage analysis ruled out known causative genes and loci, indicating significant genetic heterogeneity in CACD.
- Further research is needed to identify novel genes responsible for CACD.
Background:
A Chinese family with autosomal dominant central areolar choroidal dystrophy (CACD) was identified. The purpose of this study was to collect the clinical findings from the family and to identify the genetic entity by linkage analysis.
Methods:
Forty-three individuals from 3 generations of the family underwent ophthalmologic examinations, including best-corrected visual acuity, examination of the anterior segments, and inspection of the ocular fundus after pharmacologic mydriasis. Affected family members further underwent color vision test, color fundus photography, fluorescein angiography, automated perimetry, and electroretinography. The family was followed up for 30 months. Peripheral venous blood or buccal swabs were collected from each family member and genomic DNA was extracted. Linkage analysis was performed for candidate genes or loci using microsatellite markers.
Results:
Seven family members in 3 continuous generations were diagnosed as having autosomal dominant CACD. The family showed progressive development of the disease, affecting both male and female. Age of onset of visual disturbances varied between 11 and 50 years. Phenotypic variability among affected individuals was apparent and ranged from relatively normal-appearing fundus with mild parafoveal pigment mottling to geographic atrophy of the macula. Fluorescein angiography showed hyperfluorescent parafoveal changes in early stage or well-demarcated area of chorioretinal atrophy with enhanced visibility of the residual underlying choroidal vessels in the late stage. Peripheral retina and visual fields were normal in affected individuals. Electroretinogram showed normal or mild reduction in the photopic amplitude. Eight candidate genes (STGD4, RCD1, peripherin/RDS, GUCA1A, RIMS1, UNC119, GUCY2D, and AIPL1) and two genetic loci (4p15.2 - 16.3, and 17p13) were excluded to be responsible for the disease by linkage analysis.
Conclusions:
The clinical findings of this Chinese family with CACD shared similarities with previously reported families of other ethnicities. Linkage analysis excluded the known genes and genetic loci, indicating genetic heterogeneity of the disease.
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