Clinical and visual electrophysiological characteristics of vitelliform macular dystrophies in the first decade of life

Abstract

Purpose: To evaluate patterns of pediatric vitelliform macular dystrophy (PVMD).

Methods: This is a retrospective analysis of Indian children with vitelliform macular dystrophy (VMD) presenting within the first decade of life. Records were evaluated for clinical findings, family screening, and investigative findings including optical coherence tomography (OCT), fundus autofluorescence (FAF), full-field electroretinogram (ERG) and electrooculogram (EOG). Electrophysiology was scrutinized and audited for acquisition and interpretation errors. Findings on follow-up were also recorded.

Results: 46 eyes of 24 patients were included. Mean age at presentation was 7.17 ± 2.17 years. Mean follow-up duration was 1.55 ± 1.69 years. Best disease was the commonest type of VMD detected (21 patients), while autosomal recessive bestrophinopathy was seen in three cases. Mean logMAR BCVA was 0.364 which decreased to 0.402 on follow-up. Hyperopia was noted in 29 out of 46 eyes (mean being +3.87 D, range ebing +0.75 to +8.75 D). Four eyes of four children had choroidal neovascular membrane at presentation, while another child developed while in follow-up. Solid type subretinal deposit was the commonest OCT finding (n = 29/38) and central hyper FAF was the commonest pattern (n = 18/32). EOG was available for review in 32 eyes, but was unreliable in 11 eyes. Seven eyes demonstrated complete absence of light rise on EOG.

Conclusion: PVMD can present in advanced forms. Progression to complications with loss of visual acuity can happen within the first decade of life. EOG shows grossly suppressed waveforms in the light phase in a large number of such children.

Keywords: Autosomal recessive bestrophinopathy; best disease; best vitelliform macular dystrophy; electrooculogram; pediatric retinal dystrophy.

Figure 1

Image representative of case of autosomal recessive bestrophinopathy in a 4-year-old child. Note the hyper-FAF extramacular lesions seen as multifocal deposits in both eyes

Figure 2

Image representative of Best Vitelliform macular dystrophy in a 7-year-old child. The disease is in stage 2 with noticeable corresponding hyper-FAF lesions

Figure 3

Image representative of Best disease in a 10-year-old child with CNVM in right eye. OCT angiography proved useful in showing a type 2 vascular network in deep retinal as well as outer retinal complex

Figure 4

Acquiring electrooculogram (EOG) is challenging in children and must be scrutinized for reliability, specifically for regularity of the wave forms and time points of measurements. (a) Image shows the irregular waveforms filled with noise throughout the EOG study of a 9-year-old boy with Best disease. (b) Image shows smoother and more regular square wave forms during EOG of a 5-year-old child with Best disease during dark phase. (c) Automated calculation of Arden’s ratio in a 9-year-old child. Though the ratio as reported a low in both eyes, right eye image shows the automated measuring point for “dark trough” has been erroneously picked during the light phase at 19 minutes. The time points are correct for the left eye