March 15, 2022
Authored by: Danielle Strauss, MD
CC: 56 yo man referred by his OD for new metamorphopsia in the right eye for 2 days.
PMHX: No past medical history
Past ocular history: Reports difficulty seeing at night since childhood. Patient unaware of anyone else in his family with vision issues.
Va sc: 20/60 OD, 20/30 OS
IOP: 14 OD, 15 OS
DFE: see imaging below
Widefield Color photos:
Right eye widefield photo shows macular changes as well as peripheral pigmentary changes.
A magnified image of the right macula shows an accumulation of yellowish material in the macula (indicated by red arrow) as well as subretinal deposits around the arcades.
Fundus autofluorescence (FAF) right eye shows hyperautofluorescent macular deposits, with speckled areas of both hypo and hyper autofluorescence. The increase in AF indicates the accumulation of lipofuscin.
Widefield fundus photo of the left eye shows similar findings.
Magnified view of the posterior pole of the left eye showing yellowish subretinal deposits.
FAF of the left eye shows the submacular deposits to be hyperautofluorescent.
Fluorescein angiography (FA) of the right eye shows a dark choroid due to significant lipofuscin accumulation, diffuse staining of the subretinal deposits in a butterfly shaped pattern, and with late leakage in the macula (indicated by the blue arrow).
FA of the left eye shows a dark choroid and diffuse staining but no leakage.
SD-OCT through the macula of the right eye shows deposits at the level of the RPE and a choroidal neovascular membrane.
SD-OCT of the left eye shows RPE deposits.
The patient has a bilateral process mainly involving increased lipofuscin accumulation at the level of the RPE. We strongly considered a pattern dystrophy with a secondary CNVM in the right eye causing new metamorphopsia. The differential diagnosis also included
We decided to get genetic testing on this patient to further elucidate the cause of his retinal disease. OMNI/Phillips eye offers free genetic testing through Invitae for patients with suspected hereditary retinal disease.
We also decided to initiate treatment with avastin for the CNVM.
The patient received an intravitreal injection of avastin into the right eye on the day of his consultation.
One month later, the patient returned to the office stating his vision and the metamorphopsia had improved significantly. He also reported that his uncle had a history of vision loss but never knew why.
BCVA OD: 20/25
OCT of the macula right eye showed resolution of the CNVM
Genetic testing results showed one pathogenic variant identified in PRPH2. PRPH2 gene is associated with a spectrum of autosomal dominant and recessive conditions affecting the ocular system including retinitis pigmentosa, pattern dystrophy including butterfly pattern dystrophy, and central areolar choroidal dystrophy.
The patient displayed elements of both butterfly pattern dystrophy as well as multifocal pattern dystrophy.
Given the genetic testing results showing autosomal dominant inheritance pattern, we recommended the patient’s children come in for DFE and multimodal retinal imaging.
The patient will receive 2 additional injections of avastin and then will be treated on an “as needed” basis.