Lessons learnt from a genetic disease registry in hong kong

Stephen T.S. Lam; C. H. To; K. W. Leung; S. P. Yip; Ivan F.M. Lo; K. P. Tsang

doi:10.12809/hkmj208659

Lessons learnt from a genetic disease registry in hong kong

Stephen T.S. Lam, C. H. To, K. W. Leung, S. P. Yip, Ivan F.M. Lo, K. P. Tsang

Research output: Journal article publication › Comment/debate/erratum

Original language	English
Pages (from-to)	226-228
Number of pages	3
Journal	Hong Kong Medical Journal
Volume	27
Issue number	3
DOIs	https://doi.org/10.12809/hkmj208659
Publication status	Published - Jun 2021

ASJC Scopus subject areas

Medicine(all)

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10.12809/hkmj208659

http://hdl.handle.net/10397/91502

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@article{f6fe9ac3e40745968deef852572e3db7,

title = "Lessons learnt from a genetic disease registry in hong kong",

author = "Lam, {Stephen T.S.} and To, {C. H.} and Leung, {K. W.} and Yip, {S. P.} and Lo, {Ivan F.M.} and Tsang, {K. P.}",

note = "Funding Information: A rare genetic eye disorder, RP causes progressive visual loss due to degeneration of cells in the retina, estimated to affect 1 in 4000 people in the United States and worldwide.1 There are, however, no reported prevalence data in Hong Kong. The diagnosis of RP is based on the clinical features which include symptoms of night vision impairment and tunnel vision, and the findings of typical retinal appearance of attenuated blood vessels, so-called bone spicule pigmentation or its variant appearance and an atrophic optic disc. These are supported by an abnormal constricted visual field and a non-recordable or abnormal electroretinography with diminished a and b waves with increased implicit time. The RP is also highly genetically heterogeneous, with more than 80 genes implicated and their mode of inheritance varies. This means one patient{\textquoteright}s RP may be a different genetic disorder from that of another RP patient, with different inheritance, natural course, and prognosis. The rarity of the disease and the associated genetic heterogeneity are major obstacles to facilitating research and enhancing medical care to these patients and their families. The Hong Kong Retinitis Pigmentosa Society was started in 1995 as a patient group, and subsequently renamed as Retina Hong Kong. Under the auspices of Retina Hong Kong, a Scientific and Medical Advisory Committee (SMAC) was established. In 1997, the SMAC secured a grant from the Healthcare and Promotion Fund of the Hong Kong Government to start organising the Hong Kong Patients Registry of Retinal Degenerations. It was the original intention for this registry to cover most retinal degenerative conditions. However, because of resource constraints, it was decided that the scope should be limited to RP as the first group of members to be covered. Hence, the registry was also abbreviated as the Hong Kong Retinitis Pigmentosa Registry. It turned out to be the first registry of its kind among Chinese populations in the whole world, and to the best of our knowledge, there is no other Chinese Registry presently.",

year = "2021",

month = jun,

doi = "10.12809/hkmj208659",

language = "English",

volume = "27",

pages = "226--228",

journal = "Journal of the Hong Kong Medical Association",

issn = "1024-2708",

publisher = "Hong Kong Academy of Medicine Press",

number = "3",

}

TY - JOUR

T1 - Lessons learnt from a genetic disease registry in hong kong

AU - Lam, Stephen T.S.

AU - To, C. H.

AU - Leung, K. W.

AU - Yip, S. P.

AU - Lo, Ivan F.M.

AU - Tsang, K. P.

N1 - Funding Information: A rare genetic eye disorder, RP causes progressive visual loss due to degeneration of cells in the retina, estimated to affect 1 in 4000 people in the United States and worldwide.1 There are, however, no reported prevalence data in Hong Kong. The diagnosis of RP is based on the clinical features which include symptoms of night vision impairment and tunnel vision, and the findings of typical retinal appearance of attenuated blood vessels, so-called bone spicule pigmentation or its variant appearance and an atrophic optic disc. These are supported by an abnormal constricted visual field and a non-recordable or abnormal electroretinography with diminished a and b waves with increased implicit time. The RP is also highly genetically heterogeneous, with more than 80 genes implicated and their mode of inheritance varies. This means one patient’s RP may be a different genetic disorder from that of another RP patient, with different inheritance, natural course, and prognosis. The rarity of the disease and the associated genetic heterogeneity are major obstacles to facilitating research and enhancing medical care to these patients and their families. The Hong Kong Retinitis Pigmentosa Society was started in 1995 as a patient group, and subsequently renamed as Retina Hong Kong. Under the auspices of Retina Hong Kong, a Scientific and Medical Advisory Committee (SMAC) was established. In 1997, the SMAC secured a grant from the Healthcare and Promotion Fund of the Hong Kong Government to start organising the Hong Kong Patients Registry of Retinal Degenerations. It was the original intention for this registry to cover most retinal degenerative conditions. However, because of resource constraints, it was decided that the scope should be limited to RP as the first group of members to be covered. Hence, the registry was also abbreviated as the Hong Kong Retinitis Pigmentosa Registry. It turned out to be the first registry of its kind among Chinese populations in the whole world, and to the best of our knowledge, there is no other Chinese Registry presently.

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Lessons learnt from a genetic disease registry in hong kong

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