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Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome.

ABSTRACT: Waardenburg syndrome was first described in 1951 by Dutch ophthalmologist Petrus Johannes Waardenburg (1886-1979). It is an auditory-pigmentary syndrome that results from a lack of melanocytes in the hair, skin, eyes, or stria vascularis of the cochlea. It accounts for more than 2% of congenitally deaf individuals [Indian J Otolaryngol Head Neck Surg. 2015 Sep;67(3):324-8]. Affected people usually have neurosensory hearing loss, forelock pigmentation loss, iris heterochromia, and medial canthus dystopia, and their first-degree relatives have the same features of this syndrome. The following is a report of an unusual and rare presentation of ocular findings in Waardenburg syndrome. A 25-year-old male presented for eye examination due to gradual loss of his left eye visual acuity over the last few years with characteristic features of Waardenburg syndrome along with high intraocular pressure (IOP), cataract, and retinal detachment (RD) in one eye.

SUBMITTER: Al-Najmi Y

PROVIDER: S-EPMC10176194 | biostudies-literature | 2023 Jan-Dec

REPOSITORIES: biostudies-literature

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Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome.

Al-Najmi Yahya Y Abdalla Elsayed Maram E A MEA Alsaggaf Khalid K Alghamdi Albatool A Albeedh Mohammed M

Case reports in ophthalmology 20230101 1

Waardenburg syndrome was first described in 1951 by Dutch ophthalmologist Petrus Johannes Waardenburg (1886-1979). It is an auditory-pigmentary syndrome that results from a lack of melanocytes in the hair, skin, eyes, or stria vascularis of the cochlea. It accounts for more than 2% of congenitally deaf individuals [Indian J Otolaryngol Head Neck Surg. 2015 Sep;67(3):324-8]. Affected people usually have neurosensory hearing loss, forelock pigmentation loss, iris heterochromia, and medial canthus ...[more]

PMID: 37187672

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Project description:PurposeTo determine the long-term changes in the intraocular pressure (IOP) following vitrectomy for rhegmatogenous retinal detachment (RRD), epiretinal membrane (ERM), and macular hole (MH), and to investigate the relationship between the retinal disease and the incidence of late-onset IOP elevation.MethodsThis was a retrospective, observational, comparative study. We reviewed the medical records of 54 eyes of 54 RRD patients, 117 eyes of 117 ERM patients, and 75 eyes of 75 MH patients who underwent 20-, 23- or 25-gauge vitrectomy. The IOPs before surgery and 1, 3, 6, and 12 months following vitrectomy, and also at the final visit (average, 23.95 months) were evaluated. We defined a significant increase in the IOP as an increase of ?4 mmHg from the preoperative IOP, and this increase was taken to be a 'death' event for the Kaplan-Meier survival analyses.ResultsThe mean follow-up period was not significantly different among the groups. The mean IOP at 3 (P = 0.001) and 12 (P = 0.011) months following the vitrectomy and at the final visit (P = 0.002) were significantly higher than that before the vitrectomy in the RRD group. The mean IOP in the RRD group was significant higher than that in the ERM group at 1 (P = 0.005), 3 (P = 0.009), and 12 (P = 0.013) months following vitrectomy, and at the final visit (P = 0.032). Kaplan-Meier survival analyses showed that the RRD group had a significantly higher risk of an IOP increase following vitrectomy than the other groups (P<0.001 by log-rank test). Multivariate logistic regression analyses showed that a preoperative diagnosis of RRD was the only risk factor that was significantly associated with a postoperative IOP elevation after excluding eyes with a low preoperative IOP (odds ratio, 3.208; P = 0.003).ConclusionsA late-onset IOP elevation following vitrectomy was observed only in eyes that underwent RRD surgery. The elevation was probably caused by the specific characteristics and surgical procedures of RRD. Clinicians should pay more attention to the IOP elevation for long times after vitrectomy especially in eyes with RRD.

Project description:ImportanceRhegmatogenous retinal detachment is a potentially sight-threatening condition. The role of myopia or intraocular pressure (IOP) in retinal detachment remains unclear.ObjectiveTo determine if myopia or IOP is associated with retinal detachment risk using genetic data.Design, setting, and participantsObservational analyses and 2-sample mendelian randomization were used to evaluate the associations between myopia, IOP, and retinal detachment risk in European descent participants from the UK Biobank (UKBB) cohort (n = 405 692). For retinal detachment, a genome-wide association study on 4257 cases and 39 181 controls in the UKBB was conducted. Genetic variants associated with mean spherical equivalent (MSE) refractive error (n = 95 827) and IOP (n = 101 939) were derived using independent participants from the retinal detachment genome-wide association study. Recruitment to the UKBB occurred between 2006 and 2010, and data analysis occurred from February 2019 to March 2020.Main outcomes and measuresThe odds ratio (OR) of retinal detachment caused by per-unit increases in MSE refractive error (in diopters [D]) and IOP (in mm Hg).ResultsOf the 405 692 participants in the UKBB cohort, the mean (SD) age was 56.87 (7.96) years, the mean (SD) MSE was -0.31 (2.65) D, the mean (SD) corneal-compensated IOP was 16.05 (3.49) mm Hg, and 4253 participants (1.0%) had retinal detachment. Genetic analyses of the 4257 cases and 39 181 controls identified 2 novel retinal detachment genes: COL22A1 (lead single-nucleotide variant rs11992725; P = 4.8 × 10-10) and FAT3 (lead single-nucleotide variant rs10765568; P = 1.2 × 10-15). Genetically assessed MSE refractive error was negatively associated with retinal detachment (per-unit [D] increase in MSE refractive error: OR, 0.72; 95% CI, 0.69-0.76; P = 3.8 × 10-44). For each 6-D decrease in MSE refractive error (representing the move of refractive error from emmetropia to high myopia), retinal detachment risk increased 7.2-fold (95% CI, 5.19-9.27). For per-unit (mm Hg) genetically assessed increase in IOP, the risk of retinal detachment increased by 8% (OR, 1.08; 95% CI, 1.03-1.14; P = .001).Conclusions and relevanceThis study provides genetic support for the assertion that myopia and IOP are associated with the risk of retinal detachment and that myopia prevention efforts may help prevent retinal detachment.

Dataset Information

Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome.

Publications

Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome.

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