A survey of hereditary aspects of pigmentary retinal dystrophies

Dickinson, Pamela; Mulhall, Lin

doi:10.1111/j.1442-9071.1989.tb00528.x

Cited by 16 publications

(11 citation statements)

References 13 publications

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“…In comparison, the majority of retinitis pigmentosa cases are sporadic and most likely recessive in inheritance in the Australian population. 63 Down's syndrome was the most common systemic association with sporadic cataract. Six per cent of 300 Down's syndrome patients on our database were also known to have cataracts.…”

Section: Discussionmentioning

confidence: 99%

Aetiology of congenital and paediatric cataract in an Australian population

Wirth

Russell‐Eggitt

Craig

et al. 2002

British Journal of Ophthalmology

126

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Background/aim: Paediatric cataract is a major cause of childhood blindness. Several genes associated with congenital and paediatric cataracts have been identified. The aim was to determine the incidence of cataract in a population, the proportion of hereditary cataracts, the mode of inheritance, and the clinical presentation. Methods: The Royal Children's Hospital and the Royal Victorian Eye and Ear Hospital have a referral base for almost all paediatric patients with cataracts in south eastern Australia. The database contains cases seen over the past 25 years. The medical histories of these patients were reviewed. Results: 421 patients with paediatric cataract were identified, which gives an estimated incidence of 2.2 per 10 000 births. Of the 342 affected individuals with a negative family history, 50% were diagnosed during the first year of life, and 56/342 (16%) were associated with a recognised systemic disease or syndrome. Unilateral cataract was identified in 178/342 (52%) of sporadic cases. 79 children (from 54 nuclear families) had a positive family history. Of these 54 families, 45 were recruited for clinical examination and DNA collection. Ten nuclear families were subsequently found to be related, resulting in four larger pedigrees. Thus, 39 families have been studied. The mode of inheritance was autosomal dominant in 30 families, X linked in four, autosomal recessive in two, and uncertain in three. In total, 178 affected family members were examined; of these 8% presented with unilateral cataracts and 43% were diagnosed within the first year of life. Conclusions: In the paediatric cataract population examined, approximately half of the patients were diagnosed in the first year of life. More than 18% had a positive family history of cataracts. Of patients with hereditary cataracts 8% presented with unilateral involvement. Identification of the genes that cause paediatric and congenital cataract should help clarify the aetiology of some sporadic and unilateral cataracts.

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Section: Discussionmentioning

confidence: 99%

Aetiology of congenital and paediatric cataract in an Australian population

Wirth

Russell‐Eggitt

Craig

et al. 2002

British Journal of Ophthalmology

126

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“…The overall incidence is estimated at one in 4000 in the general population 1. X linked RP, a severe subtype of RP, accounts for approximately 9% of RP in an Australian clinic population 2. It typically manifests as night blindness in the first two decades and then leads to progressive visual-field loss causing blindness by the third or fourth decade in affected men.…”

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confidence: 99%

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population

Ruddle

Ebenezer²,

Kearns

et al. 2009

British Journal of Ophthalmology

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“…Extensive pedigrees were collected for affected individuals in Maine where the frequency of families by genetic type has been estimated to be 19% autosomal dominant, 65% autosomal recessive and isolates, 8% X‐linked and 8% undetermined 148 . An Australian study classified retinitis pigmentosa cases by mode of inheritance and found 62% autosomal recessive, 27% autosomal dominant, 10.7% X‐linked 149 …”

Section: Common Eye Diseases In Young Adultsmentioning

confidence: 99%

Missing X and Y: a review of participant ages in population‐based eye studies

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Hewitt

Mackey

2011

Clinical Exper Ophthalmology

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Ophthalmic population-based studies have been used to establish the frequency of eye disease and the associated environmental and genetic factors that cause vision impairment and blindness. Most of these studies have concentrated on the diseases of ageing: cataract, age-related macular degeneration, glaucoma and diabetic retinopathy. Other studies have identified eye diseases in children but few studies of young adult eye disease exist. We conducted a systematic review of the ophthalmic literature to identify potential population-based eye studies and then note the age of participants in the studies. We then summarized the disease specific to young adults to show there is a need for further research to identify eye disease in this important and often-neglected group in the community. Eighty-four large population-based studies have been conducted worldwide: 9 in North America, 2 in South America, 17 in Africa, 35 in Asia, 11 in Australia and the Pacific, 6 in Europe, 4 in the Middle East and 1 that covered 3 continents. No studies specifically examined young adults. Twenty-six per cent of studies included young adults as part of all ages examined but none of these examined a large number of young adults.

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A survey of hereditary aspects of pigmentary retinal dystrophies

Cited by 16 publications

References 13 publications

Aetiology of congenital and paediatric cataract in an Australian population

Aetiology of congenital and paediatric cataract in an Australian population

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population

Missing X and Y: a review of participant ages in population‐based eye studies

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