Overview of Retinitis Pigmentosa

  • 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

What is Retinitis Pigmentosa

Retinitis pigmentosa (RP) belongs to a group of genetic retinal diseases referred to as inherited retinal dystrophies. RP affects the cells (photoreceptors and retinal pigment epithelium) in the back part of the eye i.e., the retina which is one of the  crucial structures in eye responsible for vision. A person affected with RP can develop symptoms in early childhood or later in life. In majority of the patients, it is a progressive disease where in patient gradually experiences deterioration in visual function over the years.  This deterioration however is not uniform or not age dependent and many patients even at late ages can continue to have good central vision, though side vision maybe markedly reduced.

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, both in the rural (1 in 372) and urban (1 in 930) settings, compared to the Western populations (1 in 3000 to 1 in 7000). Prevalence of RP varies largely depending on ethnical and cultural background.

Contributed by 

  1. Dr Deepika C Parameswarappa, Faculty, Consultant Ophthalmologist, Smt. Kanuri Santamma Retina Vitreous Service, Anant Bajaj Retina Institute, LV Prasad Eye Institute
  2. Dr Subhadra Jalali, Network Director || Quality | New-born Eye Health Alliance (NEHA)
    Faculty, Consultant Ophthalmologist, Smt. Kanuri Santamma Retina Vitreous Service, Anant Bajaj Retina Institute, L V Prasad Eye Institute

References

  1. Hamel C. Retinitis pigmentosa. Orphanet journal of rare diseases. 2006 Dec;1(1):1-2.
  2. Nangia V, Jonas JB, Khare A, Sinha A. Prevalence of retinitis pigmentosa in India: the Central India eye and medical study. Acta ophthalmologica. 2012;90(8):e649-e50.
  3. Sen P, Bhargava A, George R, Ramesh SV, Hemamalini A, Prema R. Prevalence of retinitis pigmentosa in South Indian population aged above 40 years. Ophthalmic epidemiology. 2008;15(4):279-81
  4. Singh HP, Jalali S, Narayanan R, Kannabiran C. Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening. Investigative ophthalmology & visual science. 2009;50(9):4065-71.
  5. Parameswarappa DC, Das AV, Dave VP, Agarwal K, Natarajan R, Jalali S. Clinical Presentation and Demographic Distribution of Retinitis Pigmentosa in India and Implications for Potential Treatments: Electronic Medical Records Driven Big Data Analytics: Report I. InSeminars in Ophthalmology 2022 Apr 3 (Vol. 37, No. 3, pp. 284-290). Taylor & Francis
  6. Kannabiran C, Parameswarappa D, Jalali S. Genetics of Inherited Retinal Diseases in Understudied Populations. Frontiers in Genetics. 2022 Feb 28:321.
  7. Parameswarappa DC, Das AV, Thakur PS, Takkar B, Multani PK, Padhy SK, Doctor MB, Agarwal K, Jalali S. Retinitis pigmentosa in Laurence-Moon-Bardet-Biedl syndrome in India: Electronic medical records driven big data analytics: Report II. Indian Journal of Ophthalmology. 2022 Jul 1;70(7):2533-8.
  8. Parameswarappa DC, Das AV, Doctor MB, Natarajan R, Agarwal K, Jalali S. Retinitis pigmentosa in Usher syndrome in India: Electronic medical records driven big data analytics: Report III. Indian Journal of Ophthalmology. 2022 Jul 1;70(7):2540-5.
Community
Dermatological (Skin) and Opthalmology (Eyes) conditions
Condition
Retinitis Pigmentosa
Changed
Sun, 12/18/2022 - 21:08

Stories

  • Management of Retinitis Pigmentosa
    How To Manage Retinitis Pigmentosa Low vision rehabilitation and psychosocial counselling are crucial aspects in managing RP and are of huge benefit to RP patients in living life to the fullest even in the presence of visual deterioration. Low vision rehabilitation includes use of specialised devices like magnifying glasses and illumination devices for enhancement of central vision, telescopes for addressing distant vision difficulties, filtered glasses to take care of light sensitivity and…
  • Prevention of Retinitis Pigmentosa
    Can Retinitis Pigmentosa Be Prevented? As majority of the RP cases are inherited, special attention is needed to address the genetic aspect. Genetic counselling, detailed family members examination, genetic testing, understanding the pattern of inheritance, pre-natal and antenatal tests at necessary situations are very important in prevention of RP and its risk reduction in future generation. Contributed by  Dr Deepika C Parameswarappa, Consultant Ophthalmologist, LV Prasad Eye Institute…
  • Retinitis Pigmentosa Treatment
    Treatment for Retinitis Pigmentosa Specific treatments to prevent the progression or stop RP are still in evolution. Various treatments have been tried by large studies over the past few decades. Light protection by wearing of dark or yellow orange glasses are shown to help in preventing progression by few studies and help in tackling photophobia. Vitamin A, and docosahexaenoic acid supplementation has also been found useful in few studies to prevent progression. The vitamin supplementation…
  • Retinitis Pigmentosa Test and Diagnosis
    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…
  • Types and Stages of Retinitis Pigmentosa
    Types of Retinitis Pigmentosa RP can be broadly categorised as non-syndromic and syndromic. The non-syndromic form where only the eye is involved, is more commonly seen than syndromic. Syndromic RP will have an associated systemic abnormalities like Usher syndrome, Lawrence Moon Bardet Biedl Syndrome, Kearns-Sayre Syndrome, Refsum disease, Abetalipoproteinemia, Neuronal ceroid lipofuscinosis, Joubert syndrome etc. Syndromic RP requires special attention for early detection of both RP as well as…
  • Retinitis Pigmentosa Signs and Symptoms
    It is important to recognise the early Signs and Symptoms of Retinitis Pigmentosa. Symptoms of RP include night vision difficulties in childhood or later and slow loss of peripheral vision due to degeneration of rod photoreceptors. A person with RP will have visual problems in dim light, late evenings and during night-time if the illumination is low. There will also be delayed adaptation to dark environment like entering a cinema hall or dimly lit restaurant. The loss of peripheral vision is…
  • Causes of Retinitis Pigmentosa and Risk Factors
    Causes and Risk Factors of RP Retinitis Pigmentosa (RP) is caused due to a genetic defect(mutation) in the genes responsible for proper function of visual cycle which lead to abnormal protein formation and loss of function of photoreceptors. Photoreceptors (rods and cones) are light sensitive cells in the retinal layers. Rod photoreceptors are responsible for night vision and peripheral vision. Cone photoreceptors are responsible for central vision, high resolution of images and colour vision.…
  • Overview of Retinitis Pigmentosa
    What is Retinitis Pigmentosa Retinitis pigmentosa (RP) belongs to a group of genetic retinal diseases referred to as inherited retinal dystrophies. RP affects the cells (photoreceptors and retinal pigment epithelium) in the back part of the eye i.e., the retina which is one of the  crucial structures in eye responsible for vision. A person affected with RP can develop symptoms in early childhood or later in life. In majority of the patients, it is a progressive disease where in patient…
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