Retinitis Pigmentosa; Epidemiyoloji, Patofizyoloji ve Sınıflandırma

Retinitis pigmentosa (RP) en sık görülen kalıtsal retina dejenerasyonudur. Öncelikle rod ve daha sonra kon fotoreseptörlerini etkiler. RP, rod fotoreseptör işlev bozukluğunu yansıtan gece körlüğü ve periferik görme alanı kaybı ile kendini gösterir. Kistoid maküla ödemi dışında merkezi görme keskinliği kaybı kon fonksiyon kaybının olduğu son dönemde görülür. RP’nin klasik olarak tarif edilen fundus görünümü retina pigment epitelinin atrofisine bağlı granüler görünüm, kemik spekülü pigmentasyon, retina damarlarında incelme ve optik disk solukluğunu içerir. RP Mendelian otozomal dominant, otozomal resesif, veya X’e bağlı geçiş formlarında görülebilir. Mitokondriyal digenik formlarda nadiren görülmektedir. Ancak sporadik veya simpleks en sık görülen formdur. Son zamanlarda gen belirleme çalışmalarında büyük ilerleme kaydedilmiştir. Bu derlemede RP’nin klinik, genetik, fundus fotoğrafı, optik koherens tomografi, fundus otoflöresans, mikroperimetri, karanlık adaptometre ve oküler elektrofizyolojik özellikleri hakkında kapsamlı bir genel bakış sunulmaktadır.

Retinitis Pigmentosa; Epidemiology, Pathophysiology and Classification

Retinitis pigmentosa (RP) is the most common hereditary retinal degeneration. It primarily affects rods and then after cone photoreceptors. RP manifests with night blindness and concentric visual field loss, reflecting the dysfunction of rod photoreceptors. Central visual acuity loss occurs last period of disease due to cone dysfunction; otherwise, macula involvements like cystoid macular edema. Classically described fundus appearance of RP includes mottling and granularity of the retina pigment epithelium, bone spicule intraretinal pigmentation, attenuated retinal vessels, and optic disc head pallor. RP can be transmitted as Mendelian’s an autosomal dominant, autosomal recessive, or X-linked trait. Mitochondrial or digenic forms also rarely have been described. However, the sporadic or simplex form is the most commonly seen in the clinic. Recently great progress has been made in the identification of the causative genes. This review presents a comprehensive overview of the clinical, genetic and fundus photography, optical coherence tomography, fundus autofluorescence, microperimetry dark adaptometer, and ocular electrophysiology characteristics of RP.

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