SAIDA - The South African Inherited Disorders Association

 

Retinitis Pigmentosa (RP) is the name given to a group of hereditary diseases of the retina of the eye. The retina is a delicate layer of cells at the back of the eye where all visual information is processed. There are two types of light sensitive cells in the retina, namely rods and cones. Rod cells are mainly responsible for peripheral and night vision. There are about 120 million rod cells in each eye and they are mainly concentrated at the outer edge of the retina. The cone cells are mainly responsible for colour and fine focus vision; they are less numerous and are concentrated in the central (macula) area of the retina.

RP may be caused by a breakdown in the function of the rods or the cones in some part of the retina. The retina is so complex that breakdowns may occur in a variety of ways. The early symptoms of RP are poor night vision, slow light to dark adaptation times, poor contrast vision, and a loss of visual fields. This gradual narrowing of vision is commonly called tunnel vision and progresses until functional vision is completely lost. Inverse forms also occur where cone vision is affected.

In terms of modes of inheritance, three major types of RP can be distinguished, namely: autosomal dominant, autosomal recessive and X-linked recessive inheritance. It is estimated that 1 person in about 35 000 of the population is affected by RP. The carrier incidence of the recessive gene for RP is estimated to be about 1 in 80, in all population groups. About 1,25% of the population carries a copy of the recessive RP gene.

The RP Foundation of South Africa has branches in Benoni, Pretoria, Johannesburg, Soweto, Cape Town, Port Elizabeth, Durban and Pietermaritzburg, and is affiliated to the International RP Association. They raise funds to promote research, public awareness of RP and allied retinal conditions (macular degeneration and Usher syndrome).

National office
No 2 – 34th Street, Malvern, Johannesburg
Postal address: Box 40432, Cleveland 2022
Tel.: (011) 622-4904
Fax: (011) 622-6277
Email: national@rpsa.org.za
Email: medefindt@intekom.co.za
Web: www.rpsa.org.za
Contact: Claudette Medefindt (national secretary)
Cell: 083 306 5262

Cape Coastal
Postal address: Box 793, Hermanus 7200
Tel./Fax: (028) 312-2229
Email: rpfound@iafrica.com
Contact: Pat Woodland (Chairperson)

Cape of Good Hope
Postal address: Box 631, Goodwood 7459
Tel.: (021) 592-6099
Fax: (021) 591-3407
Email: rpcape@mweb.co.za
Contact: Linda (Secretary)

Eastern Cape
Postal address: Box 28132, Sunridge Park 6008
Tel.: (041) 365-5947
Fax: (041) 365-5964
Email: rpfoundation@icon.co.za
Contact: Gail Cillie
Cell: 082 788 2796

Free State
Postal address: Box 29485, Danhof 9310
Tel.: (051) 436-1007
Fax: (051) 503-2894
Email: dalray.daniell@total.co.za
Contact: Willie Reichert (Chairperson)

Gauteng
Postal address: Box 40432, Cleveland 2022
Tel.: (011) 622-4904
Fax: (011) 622-5984
Email: rpsagauteng@rpsa.org.za

North Gauteng (Pretoria)
Postal address: Box 16538, Pretoria North 0116
Tel./Fax: (012) 546-0373
Email: retinanorth@absamail.co.za
Contact: Poppie Strydom (Chairperson)

KwaZulu-Natal (Durban)
Postal address: Box 50330, Musgrave 4062
Tel.: (031) 311-3196 or 083 430 1381
Fax: (031) 311-3261
Email: meow@mweb.co.za
Contact: Alisande Bradshaw (Chairperson)

The International Birth Defects Information Systems (I.B.I.S) The International Birth Defects Information Systems (I.B.I.S) is a multi-lingual website dedicated to promote better care, wellbeing and prevention of malformation and developmental disorders through information sharing. IBIS Appeal IBIS Newsletter

Medical Genetic and Counselling Services Genetic counselling is a process whereby patients and their families are assisted in addressing their concerns relating to the development or transmission of a genetic disorder. Medical diagnosis, prognosis, the genetics and recurrence risks of the presenting disorder, together with providing families with options to deal with their risks and manage the disorder in the best possible way, are the primary aims of our genetic counselling service. The multidisciplinary team consists of medical geneticists, medical officers, genetic counsellors and students in training. To find out more about genetic counselling, click here. To find out more about genetic counselling clinics, please contact Mrs Zain Jakoet on the following. Tel: (011) 489-9224 Fax: (011) 489-9224

The Department of Human Genetics, University of the Witwatersrand The department of Human Genetics at the University of the Witwatersrand has published information on the commoner genetic disorders in South Africa. Please click here for more information.

The South African Society for Human Genetics The Southern African Society for Human Genetics (SASHG) is a non-profit organization for health care professionals involved and interested in Human or Medical Genetics. Please click here for more information.