Congenital Glaucoma and Its Inheritance

François, J.

doi:10.1159/000309028

Cited by 124 publications

(84 citation statements)

References 12 publications

(17 reference statements)

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“…The majority of familial cases of PCG in Saudi Arabia are inherited as an autosomal recessive trait 6 and linked to locus GLC3A on chromosome 2p21. 7 This locus has been further identified as CYP1B1, the gene responsible for the production of a cytochrome P4501B1.…”

Section: Discussionmentioning

confidence: 99%

Correlation between surgical success rate and severity of congenital glaucoma

Al-Hazmi

2005

British Journal of Ophthalmology

171

168

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Aim: To study the correlation between severity of primary congenital glaucoma (PCG) and success of three types of surgery. Methods: This was a retrospective review of all records of patients diagnosed with PCG up to age 1 year who underwent goniotomy, trabeculotomy, or combined trabeculotomy-trabeculectomy with mitomycin C as initial procedure between 1982 and 2002 at the King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. 532 paediatric glaucoma patients below age 1 year (820 eyes) with a minimum 1 year follow up were identified. The main outcome measures used for the surgeries were postoperative intraocular pressure, stability of the corneal diameter, and maintenance of corneal clarity. Surgical success was defined as a postoperative intraocular pressure of (21 mm Hg without additional medical or surgical therapy, and with decreased corneal oedema, stabilised corneal diameter, and no additional optic nerve damage for at least 1 year after surgery. Complications, time of surgical failure, and follow up were recorded. Results: The eyes were grouped into mild (249), moderate (342), and severe (229) PCG, based on intraocular pressure, corneal diameter, and clarity. All three surgical procedures resulted in high success rates of 81-100% for the mild form of PCG. Eyes classified with moderate glaucoma had a 13%, 40%, and 80% success rate respectively for goniotomy, trabeculotomy, and combined trabeculotomy-trabeculectomy with mitomycin C. The success rate for severe PCG was 10% and 70% for trabeculotomy and combined surgery respectively. Goniotomy was never done for eyes with this condition. Conclusion: Clinical classification of PCG is helpful for surgical decision making. The mild form has a high surgical success regardless of the procedure chosen. Combined trabeculotomy-trabeculectomy with mitomycin C gave the best results for moderate and severe cases of PCG.

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Section: Discussionmentioning

confidence: 99%

Correlation between surgical success rate and severity of congenital glaucoma

Al-Hazmi

2005

British Journal of Ophthalmology

171

168

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“…PCG is bilateral in 70% to 80% of cases (Francois 1980;Morin 1974). Most cases present within six months of birth, with nearly 80% presenting before one year of age (Allingham 2005a;Papadopoulos 2007).…”

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confidence: 99%

Surgical interventions for primary congenital glaucoma

Ghate¹,

Kedar²

2010

Cochrane Database of Systematic Reviews

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“…5 Since then, several modes of glaucoma inheritance have been proposed by epidemiologists, including sex-linked recessive, 6 autosomal recessive, 7,8 autosomal dominant, 9,10 and multifactorial. 11,12 In 1987, Teikari estimated the heritability of chronic open-angle glaucoma to be 13%, based on the Finnish Twin Cohort Study, 13 which supports a polygenic and/or multifactorial mode of transmission.…”

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confidence: 99%

Determinants and Heritability of Intraocular Pressure and Cup-to-Disc Ratio in a Defined Older Population

et al. 2005

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Purpose-To investigate the heritability of intraocular pressure (IOP) and cup-to-disc ratio (CDR) in an older well-defined population. Design-Family-based cohort study.Participants-Through the population-based Salisbury Eye Evaluation study, we recruited 726 siblings (mean age, 74.7 years) in 284 sibships.Methods-Intraocular pressure and CDR were measured bilaterally for all participants. The presence or absence of glaucoma was determined by a glacuoma specialist for all probands on the basis of visual field, optic nerve appearance, and history. The heritability of IOP was calculated as twice the residual between-sibling correlation of IOP using linear regression and generalized estimating equations after adjusting for age, gender, mean arterial pressure, race, self-reported diabetes status, and history of systemic steroid use. The heritability of CDR was calculated using the same model and adjustments as above, while also adjusting for IOP.Main Outcome Measures-Heritability and determinants of IOP and CDR, and impact of siblings' glaucoma status on IOP and CDR.Results-We estimated the heritability to be 0.29 (95% confidence interval [CI], 0.12-0.46) for IOP and 0.56 (95% CI, for CDR in this population. Mean IOP in siblings of glaucomatous probands was statistically significantly higher than in siblings of normal probands (mean difference, 1.02 mmHg; P = 0.017). The mean CDR in siblings of glaucomatous probands was 0.07 (or 19%) larger than in siblings of glaucoma suspect referrals (P = 0.045) and siblings of normal probands (P = 0.004).Conclusions-In this elderly population, we found CDR to be highly heritable and IOP to be moderately heritable. On average, siblings of glaucoma patients had higher IOPs and larger CDRs than siblings of nonglaucomatous probands.Primary open-angle glaucoma (POAG) is the second most common cause of blindness in the world 1 and affects approximately 2.2 million Americans. 2 Although the diagnosis of POAG centers on the characteristic excavation and atrophy of the optic nerve head and functional deficit measured by visual field (VF) change, 3 the heritability of intraocular pressure (IOP) and cup-to-disc ratio (CDR) have not been studied extensively thus far, despite the wellestablished role of heredity in POAG. In this study, we estimate the heritability of IOP and CDR from a cohort of sibships recruited through the Salisbury Eye Evaluation study. In addition, we also report the distribution of IOP and CDR among siblings of glaucomatous probands versus siblings of normal probands. Materials and Methods Subjects and General DesignBetween 1993 and 1995, a random sample of potential participants (ages 65 to 84 years) was chosen from the Health Care Financing Administration Medicare database and recruited from Salisbury, located on the Eastern Shore of Maryland, to engage in the population-based Salisbury Eye Evaluation study. 28 The cohort was invited for a follow-up examination including VF testing, optic nerve head imaging, and IOP measurement. All subjects with abnormal scr...

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Congenital Glaucoma and Its Inheritance

Cited by 124 publications

References 12 publications

Correlation between surgical success rate and severity of congenital glaucoma

Correlation between surgical success rate and severity of congenital glaucoma

Surgical interventions for primary congenital glaucoma

Determinants and Heritability of Intraocular Pressure and Cup-to-Disc Ratio in a Defined Older Population

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