Retinitis Pigmentosa Test and Diagnosis

  • Retinitis Pigmentosa
    Retinitis pigmentosa (RP) belongs to a group of genetic retinal diseases referred to as inherited retinal dystrophies. RP is one among the common disease which causes early functional visual problems in younger adults. The prevalence of RP varies widely across populations. In the Indian context, population-based studies have indicated a relatively higher prevalence of RP
Submitted by PatientsEngage on 18 December 2022

Diagnosis of Retinitis Pigmentosa

RP can be diagnosed by the typical clinical symptoms and signs observed during a clinical examination. However, there are various diagnostic tests which help in better understanding of the disease, its severity and progression pattern. The various tests include fundus autofluorescence (FAF), optic coherence tomography (OCT), Visual fields (VF), full field electroretinogram, pattern electroretinogram, dark adaptometry and genetic analysis.

FAF (Fundus Auto Fluorescence) test helps in understanding the structural damage of photoreceptors and retinal pigment epithelium.

OCT (Optic Coherence Tomography) test provides the information on all the layers of retina and their affection due to RP.

VF (Visual fields) is very crucial investigation to assess the peripheral and central vision.

The electroretinogram is gold standard in diagnosing RP which provides the functional corelation of rods and cones damage.

The confirmatory test for RP is by genetic testing of the blood sample to detect the associated gene involved, type of mutation and pattern of inheritance. A good genetic counselling and family pedigree analysis by an expert geneticist is crucial.

Contributed by 

Dr Deepika C Parameswarappa, Consultant Ophthalmologist, LV Prasad Eye Institute
Dr Subhadra Jalali, Network Director, Consultant Ophthalmologist, L V Prasad Eye Institute

Community
Dermatological (Skin) and Opthalmology (Eyes) conditions
Condition
Retinitis Pigmentosa

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