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Norrie disease

Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, with masses of immature retinal cells accumulating at the back of the eye. As a result, the pupils appear white when light is shone on them, a sign called leukocoria. The irises or the entire eyeballs may shrink and deteriorate during the first months of life, and cataracts may eventually develop. more...

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About one third of individuals with Norrie disease develop progressive hearing loss, and more than half experience developmental delays in motor skills. Other problems may include mild to moderate mental retardation, often with psychosis, and abnormalities that can affect circulation, breathing, digestion, excretion, or reproduction.

Mutations in the NDP gene cause Norrie disease. The NDP gene produces a protein called norrin, which is believed to be crucial to normal development of the eye and other body systems. In particular, it seems to play a critical role in the specialization of retinal cells for their unique sensory capabilities. It is also involved in the establishment of a blood supply to tissues of the retina and the inner ear. This condition is inherited in an X-linked recessive pattern.

This article incorporates public domain text from The U.S. National Library of Medicine

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Obituaries
From British Medical Journal, 2/10/01

Cyril Astley Clarke

Former professor of medicine Liverpool University and president of the Royal College of Physicians (b 1907; q Guy's 1932; KBE, MD, FRCP, FRCOG, FRCPath, FRS), d 21 November 2000. Cyril discovered with my mother Feo that anti-D immunisation prevented Rhesus haemolytic disease. In 1932 he had seemed ill equipped for research and presidency of the Royal College. He worked in medical insurance to sail at the weekends at Itchenor, thus meeting my mother. In 1998 in the note on her coffin he wrote: "The prettiest girl in Sussex." Concerned by events early in 1939 he joined the Royal Naval Volunteer Reserve, sailing to Australia aboard the Empress of Scotland. By 1945 consultant physician posts were like gold dust. In 1946 he secured one: life seemed set for NHS practice in Liverpool with private rooms in Rodney Street. In the 1950s came the turning point--headlong into genetics, developing also his lifelong interest in lepidoptera. He studied mimicry in the butterfly Papillio dardanus; in man, ABO blood groups. Rounding on the Rhesus he then confounded immunologists, obstetricians, and paediatricians. Anti-D really worked, a discovery enabling countless thousands to survive. Numerous accolades followed. He succeeded Lord Cohen of Birkenhead to the Liverpool medicine chair in 1965, transforming the department into one of the finest. Cyril became the first non-London Royal College president. He initiated its research unit and fundamental changes in the MRCP. He had boundless energy, charm, unusual intelligence, great impatience, and wit. He once told me he had failed to reach the House of Lords because he had infuriated a GP peer by indicating an association between deaths from meningoccal meningitis and Thursday afternoons, the GP's traditional half day. He added with a grin: "Sic transit gloria mundi." He leaves three sons. [CHARLES CLARKE]

Robert (Bob) Edwin Bowers

Consultant dermatologist North Gloucestershire 1950-80 (b 1918; q St Thomas's 1943; MD, FRCP), d 16 February 2000. Unable to join the forces because he had pulmonary tuberculosis, Bob worked in the emergency medical service in London during the war. He was registrar at St John's Hospital for Diseases of the Skin before becoming a consultant in Gloucestershire. A founder member of the Dowling Club, he gave the Dowling Oration in 1959. His most important papers are still quoted today. His research into childhood angiomas established the conservative treatment of the strawberry naevus: this was the subject of his Dowling Oration. Other significant papers included the treatment of psoriasis with ultraviolet light, dithranol, and tar. He was president of the Gloucestershire branch of the BMA. Bob was a good cook, sang bass in the local choir, and was commodore of the Avon Sailing Club. In anticipation of his retirement from medicine, he trained as a cabinet maker and woodturner. A gentle and modest man, he bore many tragedies: the deaths of a daughter aged seven, his first wife from breast cancer and his second from Alzheimer's disease. He leaves three children and six grandchildren. [P W AND R K BOWERS]

Norman Arthur Glossop Covell

Consultant orthopaedic surgeon Preston and Chorley Hospitals 1952-77 (b Liverpool 1914; q Liverpool 1940; MChOrth, FRCS), died from prostate cancer on 4 October 2000. Norrie was a surgical trainee in Liverpool during the Blitz and also served in the Royal Air Force, reaching the rank of squadron leader. After a spell as senior registrar in Preston, he was appointed consultant in 1952. Frequently he would return to the ward at night to check a plaster or that a tourniquet had not been left in situ inadvertently. He managed all the trochanteric femoral neck fractures in the unit for almost 20 years and also had special interests in children's orthopaedics, shoulder surgery, and bone tumours. His annual holiday was sailing off western Scotland in the beloved Andrea Lynn, for which preparations were meticulous. Always one to take the greatest care with his own health, retirement was ironically minted by fractures of the ankle and hip. Predeceased by his wife, Betty, who had Alzheimer's disease, he leaves three children and five grandchildren. [M R WHARTON]

Peter Derrick Drinkwater

General practitioner Brierfield, Nelson, Lancashire, 1954-87 (b Ayrshire 1924; q Manchester 1949), died from acute myocardial infarction on 12 October 2000. After house jobs at Manchester Royal Infirmary and military service with the Royal Army Medical Corps in Hamburg, he did obstetrics at Huddersfield and GP training at Emley in Yorkshire. He and his wife, Jean, who was in the same year at Manchester, then joined the practice in Brierfield where they remained for 34 years. Peter was divisional surgeon to the Brierfield St John Ambulance for 35 years, and in 1988 was promoted to officer of the Order of St John. He was a keen angler and walker until he had a severe stroke, from which he made a significant recovery. His other main interests were music and reading, especially biographies. He leaves Jean; three sons; and eight grandchildren. [WINSTON TURNER]

George Alexander Findlay (Alistair)

Former general practitioner Chryston, Glasgow, and Lochgoilhead in Argyll (b Cullen 1921; q Aberdeen 1943), d 1 June 2000. He did not allow his colour blindness to prevent him from joining the Royal Naval Volunteer Reserve, serving on a minesweeper in the Pacific until 1946 and being mentioned in dispatches in 1945. He remained in Chryston for 35 years, before moving to a rural practice at Lochgoilhead, where he worked every second week in a practice of a few hundred patients. During the 1970s he spent several holidays doing locums on the tiny Orkney island of Papay Westray and serving on a supply ship during the Icelandic cod wars. Alastair's respect for the sea remained with him from his upbringing on the Moray coast until when, no longer able to walk round a golf course, he still enjoyed a dram and the ever-changing view of Loch Goil from his lounge window. Predeceased by his first wife Greta, he leaves his second wife, Ray; three children; and seven grandchildren. [GILLIAN TERRY]

Norman Mendick

General practitioner Hackney, London, 1959-87 (b Glasgow 1927; q Edinburgh 1950), died suddenly from myocardial infarction and rupture on 3 November 2000. After various house jobs, national service in the Far East, and three long assistantships and locum work, he was appointed to a single handed practice where he stayed until he retired. His meticulously kept and beautifully handwritten notes document the high quality care that he gave his patients. This was not the currently fashionable teamwork or anticipatory care, but the continuing care of a personal doctor for their problems, including his beloved obstetrics. This and his accessibility were much appreciated by his patients, who came from all sections of the socially and ethnically mixed population of the area. For many his retirement was like a bereavement, and they inquired fondly after him for years. His single handedness did not, however, reflect professional isolation. He served for many years on committees, taught midwives and nurses, and organised postgraduate training for GPs. He leaves a wife, Ruth, and two children. [PETER D TOON]

Robert Moffat

General practitioner Edinburgh (b 1918; q Edinburgh 1942), d 9 October 2000. After wartime service as a surgeon lieutenant with the Royal Naval Volunteer Force, which took him to the Indian ocean and the Normandy Landings, he became an assistant in general practice in 1947. In 1952, he became a principal, taking over his father-in-law's single handed practice, which was based at home. After further study, he also took a clinical assistant post in ophthalmology at the Royal Infirmary of Edinburgh. Bobby and his wife Margaret took their breaks at their house in Carsphairn near the family estate at The Eriff. He leaves Margaret; five children; and 16 grandchildren. [GREGOR PURDIE]

William Norman-Taylor

Former senior medical officer World Health Organization (b Midsomer Norton, Somerset, 1915; q St Bartholomew's 1939; MD, DPH, DIH), d 31 December 2000. His career in public health and occupational medicine gave him the chance to work with people in some of the more disadvantaged parts of the world. He developed pulmonary tuberculosis while serving in the Royal Army Medical Corps in Egypt and was evacuated to South Africa. He took his discharge there and worked in a mission hospital, an experience that led him to take up preventive medicine. Aged 32 he was appointed professor of hygiene at Fort Hare, then the only university for non-Europeans in South Africa, before joining the World Health Organization as senior medical officer, attached to the Brazzaville office. Posts in Nigeria, with the South Pacific Commission, in Jamaica, at North Carolina University, and with the International Labour Office in Geneva followed. Aged 50, he became medical officer of health in South West Hertfordshire. He conducted one of the first studies that revealed that children's health was at risk from parental smoking. He transferred to the Department of Employment as a medical inspector of factories, a post he held until retirement. A firm supporter of the World Medical Association, he was chairman of its associate members group. He was also a member of BMA Council and chairman of the overseas affairs committee. He leaves a wife, Andree, and seven children. [WILLIAM NORMAN-TAYLOR]

John Orr

Former consultant surgeon Garrick Hospital, Stranraer (b Alloa 1918; q Edinburgh 1941; FRCS Ed, FRCGP), d 22 June 2000. For 26 years, he was the only surgeon at the west end of Galloway, 80 miles from the district general hospital in Dumfries. He also took on a single handed general practice with 2000 patients. John had 20 surgical beds and no junior staff, he did two theatre lists every week, and handled all emergencies. One day in the mid 1970s a chainsaw worker presented with his arm attached only by a bit of skin below the shoulder. John carefully reattached the arm, which is still functioning well 25 years later. Within the hour, the surgeon was making house calls in his role as family doctor. Ten years on the same procedure, carried out in an English teaching hospital, was proclaimed a "British first" in the national headlines. John served on the Scottish council of the BMA for 18 years. He enjoyed classical music, travel, and playing the organ. He leaves his wire, Helen; a son; and three grandsons. [TONY SLATER]

Walter Norman Ramsden

Consultant anaesthetist North Staffordshire Hospital Centre 1970-99 (b Greater Manchester 1937; q Cambridge/London 1963), died from carcinoma of the colon on 15 November 2000. After house jobs he held various anaesthetic posts at The London Hospital, Leeds General Infirmary, and Cardiff Royal Infirmary, before arriving at North Staffs. He was popular with both surgeons and patients. He was a passionate gardener, an accomplished musician, and an exceptional athlete, having completed 11 marathons. He leaves a wife, Linda, and two children. [M AKHTAR]

Advice

We will be pleased to receive obituary notices of no more than 250 words. These will be submitted to an editorial committee and may be shortened. The BMJ will take responsibility for the shortening, but the name of the author who supplied the information will be given in brackets. We do not send proofs. Good quality, original, photographs are welcome.

COPYRIGHT 2001 British Medical Association
COPYRIGHT 2001 Gale Group

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