Retinitis punctata albescens

Abstract

A case report of retinitis punctata albescens in a young medical student is presented. At first, the condition was stationary with no visual problems, but after 3 years, the disease showed progression. After 9 years of follow-up, loss of visual acuity, a central scotoma, large errors in colour vision tests, much deteriorated dark adaptation, greatly diminished cone and rod responses in the electroretinogram, and progression in the myopic refraction were observed. In the family study, 71 of the relatives in four generations were examined. No signs of the disease could be found. Most probably, the disease is inherited as an autosomal recessive trait. However, tracing the ancestors back until the year 1829 no consanguinity could be found between the families of the mother and the father of the proband. As for genetic counseling of the relatives, there is a very small probability of acquiring the disease if marriages between relatives are avoided.

Flecked-Retina Syndromes

“…In this disease, the patients present with progressive night vision loss along with loss of peripheral field. 24,25 Bone-spicule like retinal pigment clumping is often also observed. The mutation in this disease is in the RLBP1 gene which encodes for cellular retinaldehyde binding protein (CRALBP).…”

The effect of intravitreal bevacizumab in a rare case of retinal dystrophy with secondary cystoid macular edema

“…Furthermore, the scotopic ERG waveforms usually do not regenerate. RPA prevalence is currently estimated at 1/800 000 people [ 1 , 3 ].…”