Cryptophthalmos

Kanhere, Sujata; Phadke, Varsha; Mathew, Anita; Irani, Simin F.

doi:10.1007/bf02726274

Cited by 7 publications

(6 citation statements)

References 8 publications

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“…In these patients, the forehead skin extends over the globe and onto the cheek without any discernable differentiation of eyelids except occasionally where a dimple or scar is seen at the site of presumed fusion of both eyelids although as we will discuss later, this dimpling is associated with a different phenotype of CO. 36 , 73 …”

Section: Clinical Picturementioning

confidence: 99%

“…The ocular structures in complete CO are usually atrophic and grossly disorganized, but the eye may be normal in size or even enlarged, may occasionally present as a cyst (Fig. 1 D), 33 , 36 , 73 , 74 and may occasionally express a reaction to light. 73 …”

Section: Clinical Picturementioning

confidence: 99%

“…The eyebrows are seldom normally developed, 36 and more commonly the entire eyebrow, its medial 2/3 or its lateral 1/3, is absent. 32 , 73 , 74 A tongue of hair, which is not yet quite distinct at birth, may be seen extending from the scalp hair into the lateral 1/3 of the eyebrow. 32 , 74 In our experience, alopecia of the eyebrows may occur anywhere and may not follow a specific pattern (Figs.…”

Section: Clinical Picturementioning

confidence: 99%

“…If surgery is to be undertaken, it should be performed in a stepwise fashion and the first objective is the elusive task of creating a conjunctival sac. 4 , 73 The skin covering the ocular remnants is divided followed by placement of a conformer covered with a mucous membrane (MM) graft. Eyelid reconstruction with stiffening of the posterior lamella and possibly further socket MM grafting could be carried out 1 year later.…”

Section: Managementmentioning

confidence: 99%

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Congenital Upper Eyelid Coloboma

Tawfik

Abdulhafez

Fouad

2015

Ophthalmic Plastic &Amp; Reconstructive Surgery

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Purpose:To review the recent literature and describe the authors’ experience with congenital upper eyelid coloboma.Methods:In this review, we will summarize the embryologic and etiopathogenetic bases of congenital upper eyelid coloboma, and study the published clinical reports. We will also attempt to briefly shed some light on the rarer syndromic curiosities associated with upper eyelid coloboma.Results:Congenital upper eyelid colobomas are one of the few nontraumatic oculoplastic emergencies that may occasionally present in the first few days of life with a corneal ulcer and may even present with impending perforation. They can present with or without corneopalpebral adhesions, may be isolated findings or a part of a larger spectrum of congenital anomalies as in the case of Fraser syndrome or Goldenhar syndrome, or could be associated with other rare curiosities that could challenge the clinician with a huge diagnostic dilemma.Conclusions:Existing literature dealing with congenital colobomas of the upper eyelid is fraught with nosologic problems, confusing etiologies, and overlapping clinical features. We attempted to clarify the salient clinical features, outline the management principles, and until a time in the not-so-distant future where advances in molecular genetic testing would help redefine the etiology and the diverse clinical spectrum of genetic diseases associated with upper eyelid colobomas, we propose a simplified classification scheme based on the relation of the coloboma to the cornea, the presence or absence of systemic features, and all the syndromic and nonsyndromic associations of congenital coloboma of the upper eyelid known today.

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Section: Clinical Picturementioning

confidence: 99%

Section: Clinical Picturementioning

confidence: 99%

Section: Clinical Picturementioning

confidence: 99%

Section: Managementmentioning

confidence: 99%

See 2 more Smart Citations

Congenital Upper Eyelid Coloboma

Tawfik

Abdulhafez

Fouad

2015

Ophthalmic Plastic &Amp; Reconstructive Surgery

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“…Abortive cryptophthalmos, also known as congenital symblepharon, is an entity where the upper eyelid is partially or completely absent the lower eyelid being normal. [1][2][3][4][5]…”

Section: Introductionmentioning

confidence: 99%

Case report: Cryptophthalmos

Chaudhary¹

2021

IJOOO

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Fraser-Cryptophthalmos syndrome

et al. 2000

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Fraser or Cryptophthalmos syndrome is a variable syndrome to the extent that cryptophthalmos might not be present in all cases. However, the main features are a "hidden eye", other craniofacial abnormalities, renal abnormalities, syndactyly and abnormal genitalia. It may be classified as isolated cryptophthalmos or cryptophthalmos sequence and cryptophthalmos syndrome. The cryptophthalmos syndrome has an autosomal recessive mode of inheritance. Isolated cryptophthalmos has been reported as an autosomal dominant trait. Prenatal diagnosis is possible using ultrasonography and fetoscopy. We report three cases of cryptophthalmos. One with renal agenesis had cryptophthalmos syndrome and the other two had isolated cryptophthalmos or cryptophthalmos sequence.

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Cryptophthalmos

Cited by 7 publications

References 8 publications

Congenital Upper Eyelid Coloboma

Congenital Upper Eyelid Coloboma

Case report: Cryptophthalmos

Fraser-Cryptophthalmos syndrome

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