In this review, we comprehensively describe ophthalmic diseases with mitochondrial DNA mutation such as Leber's hereditary optic neuropathy (LHON), progressive external ophthalmoplegia (PEO) and Kearns-Sayre Syndrome (KSS). Ocular involvement is a prominent clinical feature of various mitochondrial diseases as well. The known mitochondrial disorders such as Mitochondrial encephalomyopathy, lact...

kindler's syndrome is a rare entity of unknown cause characterized by acral blisters early in life followed by progressive diffuse poikiloderma and cutaneous atrophy. the inheritance pattern of this syndrome is not clear. we report four iranian siblings (three boys and one girl) with this syndrome, who were the result of a consanguineous marriage. in addition to the usual manifestations of the ...

Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by degeneration of alpha motor neurons resulting in hypotonia, progressive muscular weakness and atrophy.30 Spinal muscular atrophy is one of the leading hereditary causes of infant mortality,31 it comprises the second most common fatal progressive diseases after cystic fibrosis.28 Spinal muscular atrophy is the most common...

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by severe autosomal recessive genetic disorder of the central nervous (CNS) and peripheral system (PNS), affecting children young adults. Its onset before 25 years age, with mean ages death between 11 38 years, respectively. The incidence 1 in 30,000–50,000 persons. It caused, 97% cases, homozygous guanine-adenine-adenin...

to report a case of buphthalmos with neurofibromatosis (nf-1) who suffered with blindness suffered enucleation. physical examination & histopathology were performed. physical examination revealed buphthalmos & vascularized cornea with lower lid ectropion and orbital deformity. histopathologic findings shows plexiform neurofibroma in orbital tissue with scleral wall involvement. and hamartomatou...

PURPOSE To characterize the course of retinal disease in X-linked progressive retinal atrophy 2 (XLPRA2), a canine model of early onset X-linked retinitis pigmentosa (XLRP) caused by a two-nucleotide microdeletion in RPGR ORF15. METHODS The retinas of 25 XLPRA2-affected dogs (age range, 2-40.6 weeks) and age-matched control subjects were collected, fixed, and embedded in epoxy resin for morph...

PURPOSE. To characterize the retinal histopathology in carriers of X-linked progressive retinal atrophy (XLPRA1 and XLPRA2), two canine models of X-linked retinitis pigmentosa caused, respectively, by a stop and a frameshift mutation in RPGRORF15. METHODS. Retinas of XLPRA2 and XLPRA1 carriers of different ages were processed for morphologic evaluation, TUNEL assay, and immunohistochemistry. Ce...

PURPOSE To characterize the retinal histopathology in carriers of X-linked progressive retinal atrophy (XLPRA1 and XLPRA2), two canine models of X-linked retinitis pigmentosa caused, respectively, by a stop and a frameshift mutation in RPGRORF15. METHODS Retinas of XLPRA2 and XLPRA1 carriers of different ages were processed for morphologic evaluation, TUNEL assay, and immunohistochemistry. Ce...

OBJECTIVES To determine the prevalence and spectrum of retinal changes in juvenile Paget disease. METHODS Observational case series and literature review with analysis. Patients with clinical and molecular evidence of juvenile Paget disease were recruited by members of the International Hyperphosphatasia Collaborative Group. Participants underwent ophthalmic examinations consisting of at leas...