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E. Prokofyeva, E. Troeger, R. Wilke, E. Zrenner; Age of Visual Symptoms Onset in Different Types of Inherited Retinal Degenerations. Invest. Ophthalmol. Vis. Sci. 2010;51(13):3548.
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© ARVO (1962-2015); The Authors (2016-present)
To analyse the age of typical visual symptoms (VS) onset in inherited retinal degenerations (IRD) for early differential diagnosis.
The study had a cross-sectional design and included patients with clinically defined retinitis pigmentosa (RP), Stargardt disease, cone-rod dystrophies (CRD), cone dystrophies (CD), choroideremia, macular dystrophies (MD), Usher Syndrome (USH) I and II, Leber congenital amaurosis (LCA), Bardet-Biedl syndrome (BBD), and central areolar choroidal dystrophy (CACD), seen in the University Eye Hospital, Tuebingen from 2005 to 2008. Age at visual acuity (VA) decrease, night blindness (NB), photophobia, and visual field defects (VF) onset; best corrected VA (BCVA) in logMAR, and types of VF defects at first visit were analysed. The study was designed according to the 1964 Declaration of Helsinki.
Records of 544 patients (302 men and 242 women) with IRD were studied: Stargardt disease (69), CRD (66), CD (37), choroideremia (21), MD (17), USH I (5), USH II (18), LCA (15), BBD (13), CACD (7), simplex (64), X-linked (36), autosomal dominant (30), autosomal recessive RP (27), and RP of non-specified inheritance (119). Mean age of the patients was 43.5 (SD=18.3) years old. A comparison of age of typical VS onset in IRD is shown in figures (a)-(d). 117 patients had BCVA<0.3, 151 patients had 0.3<BCVA≤0.5, 182 patients had 0.5<BCVA≤1.0, 57 patients had 1<BCVA≤1.3, and 31 patients with 1.3<BCVA≤1.8, 6 patients had BCVA>1.8. A combination of peripheral and central VF defects was noted in RP and CRD.
A majority of IRD patients retained good BCVA. Patients with RP and CRD had mixed central and peripheral VF involvement. Those with CRD and CD had early photophobia and VA decrease onset. Patients with X-linked RP and RP of non-specified inheritance had earlier VA decrease and VF defects onset in comparison with other RP types.The age of typical symptoms onset is a reliable indicator for the early differential diagnosis of IRD.
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