Search Results

Bilateral papillomacular retinal folds and posterior microphthalmus:new features of a recently established disease.

• Authors : Kiratli, Hayyam; Tümer, Burak; Kadayifçilar, Sibel

Subjects: *RETINAL diseases; *MICROPHTHALMUS; *NYSTAGMUS

• Source: Ophthalmic Genetics. Sep99, Vol. 21 Issue 3, p181. 4p. 1 Black and White Photograph, 1 Chart.

Record details

Colobomatous microphthalmia and orbital neuroglial cyst: Case report.

• Authors : Garcia, Lourdes M.; Castro, Everardo; Foster, Jill A.

Subjects: *CYSTS (Pathology); *MICROPHTHALMUS

• Source: Ophthalmic Genetics. Mar2002, Vol. 23 Issue 1, p037. 6p.

Record details

Bilateral papillomacular retinal folds and posterior microphthalmus: new features of a recently established disease.

• Authors : Kiratli H; Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, Turkey. ; Tümer B

Subjects: Macula Lutea/Macula Lutea/Macula Lutea/*pathology ; Microphthalmos/Microphthalmos/Microphthalmos/*pathology ; Retinal Diseases/Retinal Diseases/Retinal Diseases/*pathology

• Source: Ophthalmic genetics [Ophthalmic Genet] 2000 Sep; Vol. 21 (3), pp. 181-4.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print Cited Medium: Print ISSN: 1381-6810

Record details

Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes.

• Authors : Ruiz Guijosa, Alexandra; Fernández, Laura Morales; Martínez de la Casa, José María

Subjects: CONGENITAL glaucoma; GENETIC testing; INTRAOCULAR pressure

• Source: Ophthalmic Genetics; Aug2024, Vol. 45 Issue 4, p421-424, 4p

Record details

Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance.

• Authors : Frasson, Maria; Calixto, Nassim; Cronemberger, Sebastião

Subjects: EYE movement disorders; DENTAL enamel; DYSPLASIA

• Source: Ophthalmic Genetics; Sep2004, Vol. 25 Issue 3, p227-236, 10p

Record details

Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5).

• Authors : Kurbasic, Mirzada; Jones, Faye V.; Cook, Larry N.

Subjects: EDEMA; EYE-sockets; OPTIC nerve diseases

• Source: Ophthalmic Genetics; Dec2000, Vol. 21 Issue 4, p239-242, 4p

Record details

Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life.

• Authors : Fahnehjelm, Cecilia; Dafgård Kopp, Eva; Wincent, Josephine

Subjects: MICROPHTHALMIA; QUALITY of life; HEART abnormalities

• Source: Ophthalmic Genetics; Apr2022, Vol. 43 Issue 2, p172-183, 12p

Record details

A Case of 22q11.2 Deletion Syndrome with Right Microphthalmia and Left Corneal Staphyloma.

• Authors : Tarlan, Berçin; Kiratli, Hayyam; Kılıç, Esra

Subjects: DELETION mutation; MICROPHTHALMIA; GENETICS of eye diseases

• Source: Ophthalmic Genetics; Dec2014, Vol. 35 Issue 4, p248-251, 4p

Record details

Chorioretinopathy and Microcephaly with Normal Development.

• Authors : Ahmadi, Hoda; Bradfield, Yasmin S.

Subjects: RETROLENTAL fibroplasia; MICROCEPHALY; COGNITION

• Source: Ophthalmic Genetics; Dec2007, Vol. 28 Issue 4, p210-215, 6p, 1 Black and White Photograph, 1 Graph

Record details

A complex chromosome translocation resulting in deletion 11 p and associated with uveal colobomata.

• Authors : Friling, R.; Yassur, Y.; Abeliovich, D.

• Source: Ophthalmic Genetics; 1995, Vol. 16 Issue 2, p71-74, 4p

Record details