Abstract
During the past twenty years, there has been an exponential increase in the knowledge and under-standing of ocular genetic diseases and syndromes. The number of human eye diseases that have a known genetic or hereditary component continues to increase. In addition, genetic diseases are the most common cause of blindness in infants and children in developed countries. Optometrists are likely to encounter patients with inherited eye disorders. They may be the first clinician the patient consults. Inherited eye diseases may be isolated (only affecting the eye) or part of a complicated syndrome. Both isolated eye diseases and genetic syndromes can have identifiable gene mutation known to cause the disease.Knowledge of the clinical and molecular features of ocular genetics and inherited eye diseases is important for appropriate diagnosis and patient management. This article reviews the current information on ocular genetics and inherited eye diseases.The ocular conditions described in the review have significant visual impairment and blindness consequences. Therefore, optometrists (as the mostly likely first line of consultation) should be able todiagnose the condition appropriately first before they could make any management, care or referralplan. Visual aids are, of course, one of the management options for such patients with visual impairment. (S Afr Optom 2012 71(4) 178-189)
Highlights
The interest in ocular genetics by ophthalmologists who described the patterns of inheritance of familiar eye diseases contributed much to the human discovery of ocular genetics
The purpose of this paper is to provide a review of the current understanding of ocular genetics
5% of primary open-angle glaucoma has a genetic basis and is attributed to a single gene[36]. This is called Mendelian forms of glaucoma, that is, glaucoma caused by mutations in myocin (MYOC) or optineurin (OPTN)[36]. These single-gene forms of glaucoma are responsible for the disease that is transmitted as a Mendelian trait often with an autosomal dominant inheritance pattern
Summary
The interest in ocular genetics by ophthalmologists who described the patterns of inheritance of familiar eye diseases contributed much to the human discovery of ocular genetics. This is called Mendelian forms of glaucoma, that is, glaucoma caused by mutations in myocin (MYOC) or optineurin (OPTN)[36] These single-gene forms of glaucoma are responsible for the disease that is transmitted as a Mendelian trait often with an autosomal dominant inheritance pattern. The genes more frequently involved in autosomal recessive retinitis pigmentosa are the genes encoding the subunits α and β of the Cgmp Phosphodiesterase, RHO and the cGMP gated ion channel protein CNGC50 Another form of retinal dystrophy is Leber’s congenital amaurosis which is an inherited condition where clinical findings commonly first appear after 2-3 months of life[45]. Choroideremia Choroideremia is an X-linked, recessively inherited, progressive, diffuse degeneration of the choroid, retinal pigment epithelium and retinal photoreceptor cells[51,52,53,54] It is caused by deletion or mutation of the CHM gene encoding Rab escort protein-1 (REP1). LOXL1 is an important enzyme in extracellular matrix formation[94]
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