Retinitis pigmentosa (RP) is a generic term for a group of disorders characterized by hereditary diffuse usually bilaterally symmetrical progressive dysfunction, cell loss and eventual atrophy of retina. Initially photoreceptors are involved and subsequently inner retina is damaged. Although both rods and cones are involved, damage to the rods is predominant. RP may be seen in isolation (Typica...

Abstract Background To report the prevalence of ocular abnormalities and investigate visual acuity in a large cohort retinitis pigmentosa (RP) patients Western China. Methods The medical records ophthalmic examination reports 2127 eyes 1065 RP at one eye hospital were retrospectively reviewed to determined relationship between best corrected (BCVA) macular abnormalities. Results Nyctalopia (58....

Late-onset retinal macular degeneration (L-ORD) is an autosomal dominant inherited disorder caused by a single missense mutation (S163R) in the CTRP5/C1QTNF5 protein. Early phenotypic features of L-ORD include: dark adaptation abnormalities, nyctalopia, and drusen deposits in the peripheral macular region. Apart from posterior segment abnormalities, these patients also develop abnormally long a...

OBJECTIVE To describe the phenotypes of 5 patients with NR2E3 mutations. METHODS Two patients with familial and 3 with sporadic early-onset nyctalopia and retinal pigment abnormalities were screened for mutations in the NR2E3 gene (OMIM 604485). The clinical course, fundus features, visual field test results, and fluorescein angiographic and electrophysiologic findings were compared. RESULT...

PURPOSE To describe the clinical findings and mutations in affected members of two families with an autosomal recessive retinal dystrophy associated with mutations in the protocadherin-21 (PCDH21) gene. METHODS A full genome scan of members of two consanguineous families segregating an autosomal recessive retinal dystrophy was performed and regions identical by descent identified. Positional ...

INTRODUCTION Retinitis pigmentosa (RP) describes a group of inherited disorders characterised by progressive retinal dysfunction, cell loss and atrophy of retinal tissue. RP demonstrates considerable clinical and genetic heterogeneity, with wide variations in disease severity, progression, and gene involvement. We studied a large family with RP to determine the pattern of inheritance and identi...

BACKGROUND/AIM The rare mitochondrial DNA (mtDNA) variant m.8340G>A has been previously reported in the literature in a single, sporadic case of mitochondrial myopathy. In this report, we aim to investigate the case of a 39-year-old male patient with sensorineural deafness who presented to the eye clinic with nyctalopia, retinal pigmentary changes and bilateral cortical cataracts. METHODS The...

Vitamin A is an essential fat-soluble vitamin important for the function of various body systems. In the eye, vitamin A is essential for the synthesis of visual pigments in photoreceptors. Vitamin A deficiency is a rare condition in the developed countries and might follow bariatric or intestinal bypass surgery.We present the case of a 67-year-old male that complained of visual loss and nyctalo...

AIMS To describe the phenotype in three family members affected by a novel mutation in the gene coding for the enzyme tissue inhibitor of metalloproteinase-3 (TIMP-3). METHODS Three members of the same family were seen with a history of nyctalopia and visual loss due to maculopathy. Clinical features were consistent with Sorsby's fundus dystrophy. Exon 5 of the gene coding for TIMP-3 was ampl...

PURPOSE Describing the ophthalmic findings of an exudative vasculopathy called as Coats-like retinitis pigmentosa on three patients. The etiology of the Coats-like retinitis pigmentosa is obscure. The principal theories have been discussed in this article. METHODS Three observational case series have been discussed. Complete ophthalmic examinations and color fundus photos, visual field, and f...