Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic Variability
نویسندگان
چکیده
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders. Diagnosis can be challenging as more than 40 genes are known to cause non-syndromic RP and phenotypic expression can differ significantly resulting in variations in disease severity, age of onset, rate of progression, and clinical findings. We describe the clinical manifestations of RP, the more commonly known causative gene mutations, and the genotypic-phenotypic correlation of RP.
منابع مشابه
Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects
Similar retinitis pigmentosa (RP) phenotypes can result from mutations affecting different rhodopsin regions, and distinct amino acid substitutions can cause different RP severity and progression rates. Specifically, both the R135L and R135W mutations (cytoplasmic end of H3) result in diffuse, severe disease (class A), but R135W causes more severe and more rapidly progressive RP than R135L. The...
متن کاملSimultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family
Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implica...
متن کاملشب کوری، هتروکرومیا و یووئیت در یک فرد از سلسله بیماران شبکور
The classical clinical triad of retinitis pigmentosa is arteriolar attenuation , retinal bone-spicule pigmentation and waxy disc pallor. A 33 year old female patient is introduced here. She had unilateral posterior subcapsular cataract, heterochromic iris, and uveitis.The patient also suffered night blindness , had a family history of low vision ,and reduced visual acuity in her right e...
متن کاملCauses of Childhood Blindness among Students of Blinds' School in Shiraz, Iran
Background: Causes of blindness in children vary according to the region and socioeconomic development. Within a given country these causes vary with passage of time. This reflects different levels of socioeconomic development and provision of healthcare services. This cross-sectional study was undertaken to estimate the major causes of severe visual impairment in children and specially prevent...
متن کاملStudy of Patterns of Inheritance in Affected Patients with Retinitis Pigmentosa in Iranian Populations
Background and Aims: Retinitis pigmentosa (RP) is the most common form of inherited retinal degeneration, photoreceptors loss of which in the retina causes visual loss. The purpose of the present study was to determine patterns of inheritance in RP patients in Yazd to help the health professional for designing suitable laboratory testing for the high risk families. Materials and Methods: Thirt...
متن کامل