Ectopia lentis in homocystinuria

Sabrane, I.; S, Saoudi Hassani; Ikhloufi, M El; Elkaissoumi, L; Taouri, Narjisse; A, Amazouzi; Cherkaoui, O.

doi:10.1016/j.jfo.2018.03.034

Cited by 7 publications

(5 citation statements)

References 1 publication

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“…A EL simples, ou EL familiar, é uma doença autossômica dominante sem manifestações sistêmicas associadas. A existência de uma forma autossômica recessiva foi também relatada [15][16][17][18] .…”

Section: El Simples Ou El Familiarunclassified

“…Na maioria dos casos, há um envolvimento de ambos os olhos, que pode ser simétrico ou não, sendo as pupilas retraídas, ovais ou elípticas e deslocadas na direção oposta à da EL 28,29 . No entanto, 40% apresentam apenas uma dilatação pupilar discreta 18,28,30 . Anormalidades oculares, síndromes e desordens metabólicas fazem parte do diagnóstico diferencial desta doença 24,27 .…”

Section: El Et Pupillaeunclassified

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Ectopia lentis: contact lens fitting and diseases with this finding

Sobrinho¹,

Peixoto²,

Ferreira³

et al. 2022

eOftalmo

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Section: El Simples Ou El Familiarunclassified

Section: El Et Pupillaeunclassified

Ectopia lentis: contact lens fitting and diseases with this finding

Sobrinho¹,

Peixoto²,

Ferreira³

et al. 2022

eOftalmo

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“…The prevalence rate of CEL is approximately 6.4/10 million 1. CEL may present with symptoms such as blurred vision, fluctuating vision and monocular diplopia,2–4 and can also occur in conjunction with abnormalities in the skeletal and cardiovascular system, as seen in Marfan’s syndrome (MFS), homocystinuria and Weill-Marchesani syndrome 5–7. MFS accounts for the largest proportion of systemic diseases in CEL patients, while cardiac manifestations associated with MFS can potentially lead to death 8–10.…”

Section: Introductionmentioning

confidence: 99%

“…1 CEL may present with symptoms such as blurred vision, fluctuating vision and monocular diplopia, [2][3][4] and can also occur in conjunction with abnormalities in the skeletal and cardiovascular system, as seen in Marfan's syndrome (MFS), homocystinuria and Weill-Marchesani syndrome. [5][6][7] MFS accounts for the largest proportion of systemic diseases in CEL patients, while cardiac manifestations associated with MFS can potentially lead to death. [8][9][10] Additionally, surgical intervention and long-term follow-up visits are usually needed for patients with CEL, which may affect their daily lives with mental health repercussions.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of functional vision and eye-related quality of life in children with congenital ectopia lentis: a prospective cross-sectional study

Liang,

Zheng,

Young

et al. 2023

BMJ Open

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ObjectivesThis study aims to evaluate the effect of congenital ectopia lentis (CEL) on functional vision and eye-related quality of life (ER-QOL) in children and their families using the Paediatric Eye Questionnaire (PedEyeQ).DesignA questionnaire survey administered via in-person interviews of patients with CEL and their parents.Participants51 children with CEL and 53 visually normal controls accompanied by 1 parent completed the survey questionnaires for the study from March 2022 to September 2022.Outcome measuresPedEyeQ domain scores. Functional vision and ER-QOL of children and their families were evaluated by calculating and comparing the Rasch domain scores of the PedEyeQ.ResultsPedEyeQ domain scores were significantly worse with CEL compared with controls (p<0.01 for each), with the exception of the Proxy Social domain among children aged 0–4 years (p=0.283). Child PedEyeQ greatest differences were in the functional vision domain (5–11 years, −20 points (95% CI −27 to −12)) and frustration/worry domain (12–17 years, −41 (95% CI −37 to −6)). Proxy PedEyeQ greatest differences were in the functional vision domain (0–4 years, −34 (95% CI −45 to −22)) and frustration/worry domain (5–11 years, −27 (95% CI −39 to −14); 12–17 years, −37(95% CI (−48 to −26))). Parent PedEyeQ greatest difference was in the ‘worry about child’s eye condition’ (−57 (95% CI (−63 to −51))).ConclusionsIn this study, children with CEL had reduced functional vision and ER-QOL compared with controls. Parents of children with CEL also experience reduced quality of life.

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“…The etiology of MSP is postulated to be the maldevelopment of the mesoderm ( 5 ). The condition may occur in an isolated form or as an ocular manifestation of systematic disorders, including Marfan syndrome ( 6 ), Weill-Marchesani syndrome ( 7 ), Alport's syndrome ( 8 ), cri-du-chat syndrome ( 9 ), homocystinuria ( 10 ), and chondrodysplasia punctata ( 11 ).…”

Section: Introductionmentioning

confidence: 99%

Phacoemulsification Combined With Supra-Capsular and Scleral-Fixated Intraocular Lens Implantation in Microspherophakia: A Retrospective Comparative Study

et al. 2022

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BackgroundMicrospherophakia (MSP) is a rare ocular condition, the lens surgery of which is complicated by both insufficient zonules and undersized capsule.MethodsThis study included MSP eyes managed with phacoemulsification combined with supra-capsular and scleral-fixated intraocular lens implantation (SCSF-IOL) and made the comparison with those treated by transscleral-fixated modified capsular tension ring and in-the-bag intraocular lens implantation (MCTR-IOL).ResultsA total of 20 MSP patients underwent SCSF-IOL, and 17 patients received MCTR-IOL. The postoperative best corrected visual acuity was significantly improved in both groups (P < 0.001), but no difference was found between the groups (P = 0.326). The IOL tilt was also comparable (P = 0.216). Prophylactic Nd:YAG laser posterior capsulotomy was performed 1 week to 1 month after the SCSF-IOL procedure. In the SCSF-IOL group, two eyes (10.00%) needed repeated laser treatment and one eye (5.00%) had a decentered capsule opening. Posterior capsule opacification was the most common complication (6, 35.29%) in the MCTR group. No IOL dislocation, secondary glaucoma, or retinal detachment was observed during follow-up.ConclusionsSCSF-IOL is a viable option for managing MSP and is comparable with the MCTR-IOL. Nd:YAG laser posterior capsulotomy was necessary to prevent residual capsule complications after the SCSF-IOL procedure.

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Ectopia lentis in homocystinuria

Cited by 7 publications

References 1 publication

Ectopia lentis: contact lens fitting and diseases with this finding

Ectopia lentis: contact lens fitting and diseases with this finding

Evaluation of functional vision and eye-related quality of life in children with congenital ectopia lentis: a prospective cross-sectional study

Phacoemulsification Combined With Supra-Capsular and Scleral-Fixated Intraocular Lens Implantation in Microspherophakia: A Retrospective Comparative Study

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