Oculocutaneous Albinism Associated with Apert's Syndrome

Margolis, Sheila; Siegel, Irwin M.; Choy, Andrew E; Breinin, Goodwin M.

doi:10.1016/0002-9394(77)90506-2

Cited by 21 publications

(5 citation statements)

References 9 publications

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“…The distance from the fovea to an horizontal meridian passing through the disc centre has been reported to be 0.58 2 0.30 mm (Williams and Wilkinson, 1992), corresponding to an angle of foveal displacement of +6.11 2 3.328. More extreme degrees of vertical foveal displacement (heterotopia) are uncommon (Cohen and Weisberg, 1950) but occur occasionally in craniofacial disorders associated with the tilted disc syndrome (Margolis et al, 1977(Margolis et al, , 1984Margolis and Seigel, 1979). In our study, vertical foveal displacement was found to be +6.108 23.8428, in close agreement with the above study.…”

Section: Discussionmentioning

confidence: 99%

“…Opt. 1999 19: No 5 extreme degrees of vertical foveal displacement (heterotopia) are uncommon (Cohen and Weisberg, 1950) but occur occasionally in craniofacial disorders associated with the tilted disc syndrome (Margolis et al, 1977(Margolis et al, , 1984Margolis and Seigel, 1979). In our study, vertical foveal displacement was found to be +6.108 23.8428, in close agreement with the above study.…”

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confidence: 99%

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An appraisal of the disc–macula distance to disc diameter ratio in the assessment of optic disc size

Barr

Weir

Purdie

1999

Ophthalmic Physiologic Optic

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The disc-macula distance to disc diameter ratio (DM:DD ratio) has been advocated as a method of supporting the diagnosis of optic nerve hypoplasia. A DM:DD ratio of 3.00 has been claimed to be a satisfactory threshold value for this purpose. This study has critically evaluated the above claim and found a value of 3.00 to be too low. The threshold DM:DD ratio values for the diagnosis of unequivocal ONH for an adult population, 5 and 2 years of age were found to be respectively 4.20, 3.93 and 3.70, the values for the diagnosis of mild ONH being 3.68, 3.44 and 3.23. Lower computed values reduce the predictive power. The method of computation of the DM:DD ratio was modified to abolish potential error due to disc rotation and foveal displacement. In an adult population, there was no correlation between the DM:DD ratio and amblyopia or disc ovalness. There was a trend of increasing DM:DD ratio towards myopia and decreasing DM:DD ratio towards hypermetropia; the DM:DD ratio may therefore be falsely high in high myopia. DM:DD ratio values below threshold should therefore be interpreted with care until formal optic disc biometry can be performed.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

An appraisal of the disc–macula distance to disc diameter ratio in the assessment of optic disc size

Barr

Weir

Purdie

1999

Ophthalmic Physiologic Optic

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“…3). 15,34,35 Other manifestations Ventriculomegaly common; progressive hydrocephalus rare 16,36 Mental retardation more common than in Crouzon syndrome May have normal intellect Hearing loss common 37,38 Hard and soft tissue syndactyly (at least second to fourth digits) 39 Cardiovascular/genitourinary anomalies w10% 40 Cervical spine anomalies (C5eC6 fusion) common 20 Light skin/hair, hyperhidrosis, acneiform lesions 41,42 Differential diagnosis Crouzon, Pfeiffer, Saethre-Chotzen, Jackson-Weiss, and Carpenter syndromes are considered, but the pattern of syndactyly usually clinches the diagnosis. 6 Pfeiffer syndrome Three phenotypic types of Pfeiffer syndrome have been delineated.…”

Section: Other Featuresmentioning

confidence: 99%

Craniosynostosis Syndromes

Brookes

Golden

Turvey

2014

Atlas of the Oral and Maxillofacial Surgery Clinics

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“…It has also been observed that OCA has peculiar correlations with Vision in Albinism Duane's syndrome and the prominent V-pattern esotropia that is typical of Apert's syndrome. Individuals with albinism do not generally notice diplopia since strabismus is present in childhood [21].…”

Section: Strabismusmentioning

confidence: 99%

Overview on Ocular Manifestations of Albinism- A Review

Albahlool

Almajed

Alwabari

et al. 2021

JPRI

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Albinism is a set of heritable disorders in ectoderm-derived tissue linked with reduced or missing melanin. Reduce melanin synthesis might include the skin, hair follicles and the eye, causing eyelid or locating the eye in the main, leading to eye albinism. Common eye symptoms include foveal hypoplasia, fundal hypopigmentation, iris transillumination, nystagma, visual acuity reduction, stereopsis decreased or absent, squint, and abnormalities in refractive functionality. Fixing the refractive defect, sun glasses or specific photo aversion filter lenses and prismatism for an irregular head posture may be needed. Operation with strabismus is typically unneeded but may be done to enhance the peripheral fields of visual fusion. In this review, we summarize ocular manifestations of albinism.

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Oculocutaneous Albinism Associated with Apert's Syndrome

Cited by 21 publications

References 9 publications

An appraisal of the disc–macula distance to disc diameter ratio in the assessment of optic disc size

An appraisal of the disc–macula distance to disc diameter ratio in the assessment of optic disc size

Craniosynostosis Syndromes

Overview on Ocular Manifestations of Albinism- A Review

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