Retinitis Pigmentosa

Eye Deceases

(H35.5) Retinitis Pigmentosa

Information on Retinitis Pigmentosa

The retina of the eye is damaged when a person suffers from Retinitis Pigmentosa (RP). Retinitis Pigmentosa is a group of hereditary eye conditions that end up with incurable blindness. Over the years, while development of symptoms for Retinitis Pigmentosa first night blindness occurs and then it leads to tunnel vision. It takes some years and even decades to develop Retinitis Pigmentosa fully. Most of the people with Retinitis Pigmentosa do not become blind until they reach at an age of 40 or 50. But in some rare cases, persons who suffer from RP go completely blind at early ages. The development of RP is not same in each case.

ICD-10 H35.5
ICD-9 362.74
OMIM 268000
MeSH D012174

Symptoms of Retinitis Pigmentosa

Though, symptoms of Retinitis Pigmentosa often first occur in childhood, severe eye sight problems only develop in early adulthood. Few of the symptoms of Retinitis Pigmentosa are listed as below:

  • Low sightedness in night
  • Loss of peripheral vision that leads to tunnel vision
  • In advanced cases patients lose the central vision
  • Dark deposits in the retina

Causes of Retinitis Pigmentosa

In most of the cases Retinitis Pigmentosa can run in families. The genetic defects may be the cause of this eye disorder. The cells which are responsible for night vision may get affected. The major risk factor is the family history of this uncommon disease. In the US, Retinitis Pigmentosa is affecting approximately 1 in 4, 000 people.

Treatment of Retinitis Pigmentosa

The examination of effectiveness of new clinical trials such as omega-3 fatty acids and DHA is in progress to treat Retinitis Pigmentosa.

The prevention is better than cure as there is no effective treatment for Retinitis Pigmentosa. Hence the following steps below can help the patient:

  • Use of sunglasses to protect retina from ultra violate rays.
  • Treatment with antioxidants may slow down the progression of RP.
  • Increase intake of vitamin A.
  • And last but not the least, monitor the eye condition on a regular basis.

Retinitis Pigmentosa Diagnosis

  • RLBP1 (autosomal recessive, Bothnia type RP)
  • RP1 (autosomal dominant, RP1)
  • RHO (autosomal dominant, RP4)
  • RDS (autosomal dominant, RP7)
  • PRPF8 (autosomal dominant, RP13)
  • PRPF3 (autosomal dominant, RP18)
  • CRB1 (autosomal recessive, RP12)
  • ABCA4 (autosomal recessive, RP19)
  • RPE65 (autosomal recessive, RP20)

Retinitis Pigmentosa Genetics

OMIM Gene Type
180100 RP1 Retinitis Pigmentosa-1
312600 RP2 Retinitis Pigmentosa-2
300029 RPGR Retinitis Pigmentosa-3
608133 PRPH2 Retinitis Pigmentosa-7
180104 RP9 Retinitis Pigmentosa-9
180105 IMPDH1 Retinitis Pigmentosa-10
600138 PRPF31 Retinitis Pigmentosa-11
600105 CRB1 Retinitis Pigmentosa-12, autosomal recessive
600059 PRPF8 Retinitis Pigmentosa-13
600132 TULP1 Retinitis Pigmentosa-14
600852 CA4 Retinitis Pigmentosa-17
601414 HPRP3 Retinitis Pigmentosa-18
601718 ABCA4 Retinitis Pigmentosa-19
602772 EYS Retinitis Pigmentosa-25
608380 CERKL Retinitis Pigmentosa-26
607921 FSCN2 Retinitis Pigmentosa-30
609923 TOPORS Retinitis Pigmentosa-31
610359 SNRNP200 Retinitis Pigmentosa 33
610282 SEMA4A Retinitis Pigmentosa-35
610599 PRCD Retinitis Pigmentosa-36
611131 NR2E3 Retinitis Pigmentosa-37
268000 MERTK Retinitis Pigmentosa-38
268000 USH2A Retinitis Pigmentosa-39
612095 PROM1 Retinitis Pigmentosa-41
612943 KLHL7 Retinitis Pigmentosa-42
268000 CNGB1 Retinitis Pigmentosa-45
613194 BEST1 Retinitis Pigmentosa-50
613464 TTC8 Retinitis Pigmentosa 51
613428 C2orf71 Retinitis Pigmentosa 54
613575 ARL6 Retinitis Pigmentosa 55
613617 ZNF513 Retinitis Pigmentosa 58
613194 BEST1 Retinitis Pigmentosa, concentric
608133 PRPH2 Retinitis Pigmentosa, digenic
613341 LRAT Retinitis Pigmentosa, juvenile
268000 SPATA7 Retinitis Pigmentosa, juvenile, autosomal recessive
268000 CRX Retinitis Pigmentosa, late-onset dominant
300455 RPGR Retinitis Pigmentosa, X-linked