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Retinal microcysts associated with optic atrophy in children – visual electrophysiology studies
Author(s) -
Thompson D.,
Henderson R.,
Moore W.,
Liasis A.,
Keenan J.,
Bowman R.
Publication year - 2016
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2016.0445
Subject(s) - ophthalmology , medicine , atrophy , retinal , foveal , headaches , electroretinography , pathology , surgery
Purpose Retinal microcysts have been described in adults with chronic or advanced optic atrophy of different aetiologies. We report microcysts in 4 children with visual electrophysiological evidence of optic atrophy. Methods Visual electrophysiological investigation of 4 children with unexplained poor vision was carried out using flash and pattern ERGs and VEPs. SPECTRALIS ® OCT images were taken. Case 1 aged 12 years logMAR VA 0.3, 0.5 was referred to investigate a suspected maculopathy as Ishihara colour vision was also reduced. The discs were described as full and consistent with bilateral drusen. Case 2 aged 4 years LogMAR VA 0.8 R&L had presented in infancy with a strabismus, and had been patched with no improvement. His hearing was also being investigated. Case 3 aged 16 years LogMAR VA BEO 0.54 R&L, was born prematurely, 32/40 weeks, and his discs were described as slightly small. Case 4 LogMAR VA 0.24, 0.1 diagnosed with ADHD presented aged 12 years with headaches. His discs were described as ‘unusual’. Results In all cases flash ERG b: a amplitude ratios were normal, whilst pattern and flash VEPs showed marked dysfunction of macular and generalised pathways. PERG N95 components were subnormal in two cases tested. In all cases RNFL was thinned and OCT showed schitic changes in the inner nuclear layer of the maculae. The markedly abnormal pVEP and fVEPs contrasted with the preserved foveal architecture and indicated schisis was not a primary cause of poor vision. MRI scans were normal in cases 1–3 and genetic results for DOA and mitochondrial disorders are awaited. Case 4 has a heterozygous mutation of FGFR2. Conclusions Our findings show that retinal microcysts associated with optic atrophy can occur as early as 4 years of age and highlight the value of visual electrophysiology in the differential diagnosis of subnormal vision of children.