Distribution and clinical peculiarities of monogenic retinal dystrophies at the Center for Ophthalmology, University of Tuebingen

Abstract

Abstract Purpose To investigate distribution and clinical peculiarities of monogenic retinal dystrophies (MRD). Methods Patients, seen in Tuebingen Department of Ophthalmology in 1994‐1999 and diagnosed with Macular dystrophy (MD), Stargardt disease (ST), Bardet‐Biedl syndrome (BBS), Usher syndrome (USH) I and II, Central Areolar Choroidal Dystrophy (CACD) and Choroideremia (CHD) were selected from the database, containing 3787 records. Age, sex, diagnosis, age at first visual acuity (VA) decrease, at night blindness (NB), photophobia onset, types of visual field (VF) defects and mean age of onset (MAO), best corrected VA (BCVA) were analyzed. For VF assessment patients were divided into 2 groups: group 1: ST, MD, CACD; group 2: BBD, USH I, II, CHD. Results Records of 259 patients were reviewed. Male/female ratio was 2:1. Mean age (MA) of the patients was 47 (SD=15,6). Prevalence of diagnoses were ST‐34%, USH II‐22%, MD‐18%, CHD‐14%, USH I‐7%, BBS‐5%. In 29% of all patients were first diagnosed at age between 21‐30 years, when 29% of these patients noticed VF defects (MAO=26, SD=14.5) and 24% ‐ VA decrease (MAO=25, SD=14). MAO of NB‐23 years (SD=14.8), MAO of photophobia‐26 (SD=15). Group 1 presented concentric constriction in 82%, central scotoma in 14 % and ring scotoma in 4%, group 2 ‐ 29%, 57% and 14% respectively. 50% of all patients preserved BCVA at better eye at the level of 20/40 or higher, 31% had 20/40>VA>20/200, 12% had VA less or equal to 20/200. 7% were legally blind according to the German law, having VA<1/50 or VF<5°. Conclusion The most prevalent diagnoses were ST, USH II, MD. Concentric constriction and central scotoma were decreasing the quality of life of MRD patients.