Ophthalmic Findings in GAPO Syndrome

İlker, Süleyman Sami; Öztürk, Faruk; Kurt, Emin; Temel, Metin; Gül, Davut; Sayli, B S

doi:10.1016/s0021-5155(98)00058-6

Cited by 24 publications

(32 citation statements)

References 12 publications

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“…Many other authors (Table III) did not find this alteration in their patients [Andersen and Pindborg, 1947;Shapira et al, 1982; Manouvrier- Hanu et al, 1987;Sayli and Gül, 1996;Meguid et al, 1997]. It is possible that the optic atrophy, found in five patients, is secondary to the nerve constriction, since there is evidence that thickening of the dura mater surrounding the optic nerve constriction occurred in an eventual optic atrophy [Wajntal et al, 1990;Ilker et al, 1999]. Other eye manifestations have been documented, such as strabismus, megalocornea, bilateral keratoconus, nystagmus, ptosis, glaucoma, and abnormal pattern visual evoked response [Meguid et al, 1997;Rim and Marques-de-Faria, 2005].…”

Section: Discussionmentioning

confidence: 88%

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GAPO syndrome: Three new Brazilian cases, additional osseous manifestations, and review of the literature

Goloni-Bertollo

Ruiz

Muniz

et al. 2008

American J of Med Genetics Pt A

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The GAPO syndrome is an extremely rare autosomal recessive disease that presents as main characteristics evident growth retardation, alopecia, pseudoanodontia, progressive optic atrophy and a typical face. Until now, only 30 patients have been reported in the medical literature (nine of them from Brazil, including the three cases described in the present article). This study describes three siblings with GAPO syndrome, two female and one male, the children of consanguineous parents (first-degree cousins, inbreeding F = 1/16), who are older than the previously described patients, presenting the characteristic phenotype besides serious bone alterations in the lower limbs, which had not yet been observed.

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Section: Discussionmentioning

confidence: 88%

“…According to Ilker et al [1999], optic atrophy is not a constant finding, as it was reported in only five cases. In our study, we found this alteration in two of the three patients.…”

Section: Discussionmentioning

confidence: 95%

GAPO syndrome: Three new Brazilian cases, additional osseous manifestations, and review of the literature

Goloni-Bertollo

Ruiz

Muniz

et al. 2008

American J of Med Genetics Pt A

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“…4 The presence of abnormally shaped elastic fibrils and a lack of elastin deposition, as demonstrated in ultrastructural studies of skin biopsies, may corroborate the hypothesis of an elastin defect. 18 Furthermore, electron-microscopic evaluation of gingival biopsy, showed excessive collagen fibers and endothelial vacuolization, suggesting the involvement of extracellular pathological collagenosis. 14 The coarse and senile appearance of affected individuals, as well as the impacted dentition, might be secondary to the excess of subcutaneous and interstitial collagenous tissue accumulated during their lifetime.…”

Section: Discussionmentioning

confidence: 98%

“…14 The coarse and senile appearance of affected individuals, as well as the impacted dentition, might be secondary to the excess of subcutaneous and interstitial collagenous tissue accumulated during their lifetime. 14,18 This also could interfere with the function of tissues and organs, either as a result of overproduction or decreased breakdown. Similarly, these alterations could reduce the aqueous humor filtration For personal use only.…”

Section: Discussionmentioning

confidence: 99%

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Ophthalmic Aspects of GAPO Syndrome: Case Report and Review

Rim¹,

Marques-de-Faria²

2005

Ophthalmic Genetics

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This paper reports on a 36-year-old woman with GAPO syndrome, a rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). Her parents are consanguineous and one of her sisters is also affected. Since the first description by Anderson and Pindborg in 1947, 27 individuals have been reported with this diagnosis. They were from at least 19 different families (four of them from Brazil, including the present one), suggesting a founder effect. The phenotype of this condition, initially considered as the result of an ectodermal dysplasia, could be attributed to the accumulation of extracellular connective tissue matrix and its progressive character must be pointed out. The clinical findings, especially ophthalmological features that include bilateral glaucoma, are reviewed and discussed.

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Clinical Classification of Childhood Glaucomas

Yeung¹

2010

Arch Ophthalmol

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An updated classification of the primary and secondary childhood glaucomas is offered for clinical use, and associated systemic diseases are included to enable their early recognition in children with known glaucoma.Methods: Approximately 650 clinical records of patients with pediatric glaucoma were reviewed for type of glaucoma and associated systemic disease. A literature search was done for additional reported causes of childhood glaucoma. Previous classifications of pediatric glaucomas were also reviewed. Pertinent references to support inclusion of each clinical entity in the updated classification are included.Results: A comprehensive and referenced classification of the pediatric glaucomas was enabled by this review. Conclusion:A comprehensive, etiologically based classification of the pediatric glaucomas is now available to assist with the recognition of the many causes of primary and secondary glaucoma in childhood and to support the selection of specific treatment choices.

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Ophthalmic Findings in GAPO Syndrome

Cited by 24 publications

References 12 publications

GAPO syndrome: Three new Brazilian cases, additional osseous manifestations, and review of the literature

GAPO syndrome: Three new Brazilian cases, additional osseous manifestations, and review of the literature

Ophthalmic Aspects of GAPO Syndrome: Case Report and Review

Clinical Classification of Childhood Glaucomas

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