He has no obvious embryotoxon but does have iris hypoplasia and, on gonioscopy. has multiple iris processes up to the embryotoxon.
[gonioscopy.org]
In a masked study, chromosome changes in patients with iris hypoplasia (duplication) and Axenfeld-Rieger syndrome (deletion) were unequivocally distinguished from controls
[ncbi.nlm.nih.gov]
Reported anterior segment features in ARS include iris stromal hypoplasia (poor development of the anterior stroma of the iris), iridogoniodysgenesis (hypoplastic iris with
[molvis.org]
hypoplasia, anterior polar cataract, iris corneal adhesion, keratolenticular touch, microcornea, aniridia, chorioretinal coloboma, iris coloboma, persistence and hyperplasia
[missionforvisionusa.org]
Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia.
[eyewiki.aao.org]
[…] of the primary vitreous, microphthalmos, and optic nerve hypoplasia.
[missionforvisionusa.org]
Right eye of her son with focal iris ectropion on inferonasal area (arrow) (g), foveal hypoplasia (h).
[ijo.in]
[…] partial or complete hypoplasia of the iris; foveal hypoplasia with reduced visual acuity is almost always present and associates with early onset nystagmus.
[eyewiki.aao.org]
Aniridia Aniridia is complete or partial iris hypoplasia. It is associated with foveal hypoplasia and results in nystagmus and reduced visual acuity.
[egl-eurofins.com]
[…] syndrome; iris hypoplasia, corectopia CYP1B1 ARS associated with protruding umbilicus and dental anomalies LAMB2 Pierson syndrome; iris hypoplasia, ectropion uvea, posterior
[entokey.com]
Hypertelorism Haab's striae Telecanthus Iris hypoplasia Flat, broad nasal bridge Prominent iris processes Anterior insertion of the iris Broad-based synechia Posterior embryotoxon
[ncbi.nlm.nih.gov]
Ocular abnormalities mainly affect the iris: hypoplasia, corectopia or hole formation in the iris mimicking polycoria; cornea: prominent and anteriorly displaced Schwalbe's
[orpha.net]
Aniridia is a congenital eye disorder also referred to as iris hypoplasia.
[babymed.com]
Definition A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia.
[uniprot.org]
PURPOSE: Aniridia is a rare panocular disorder characterized by iris hypoplasia and other associated eye anomalies.
[ncbi.nlm.nih.gov]
Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia.
[ncbi.nlm.nih.gov]
Background: Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia.
[doi.org]
The aniridia consisting of a superior coloboma and inferior iris hypoplasia, foveomacular dysplasia.Atypical Gillespie syndrome associated with bilateral ptosis, exotropia
[en.wikipedia.org]
Among them, eight patients presented with normal iris, one had aniridia, and different severities of iris hypoplasia were detected in the rest.
[ncbi.nlm.nih.gov]
familial, with early-onset anterior polar cataract;autosomal dominant keratoconus with early-onset anterior polar cataracts; endothelial dystrophy-iris hypoplasia-congenital
[mendelian.co]
Other preoperative ocular abnormalities included iris hypoplasia in 10 eyes and persistent fetal vasculature in three eyes.
[ncbi.nlm.nih.gov]
She had bilateral iris transillumination and foveal hypoplasia, and her bilateral visual acuity was 20/200.
[nejm.org]
Apart from obvious findings of reduced pigmentation of retina, iris and fovea, one of the most distinctive features of OA is foveal hypoplasia.
[symptoma.com]
Presence of pendular nystagmus, transillumination defects of iris, foveal hypoplasia, reduced visual acuity and hypopigmentation of ocular fundus and skin are clear signs
[symptoma.com]
A novel PITX2 mutation causing iris hypoplasia.
[nature.com]
Example of Sectoral Heterochromia: © Image from Photo Library of Jon Miles Iris Hypoplasia Iris hypoplasia is a prevalence of fiber separations in the stroma.
[milesresearch.com]
Hypoplasia of the iris is common and when progressive may result in an ectopic pupil and/or pseudopolycoria.
[disorders.eyes.arizona.edu]
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.
[jmg.bmj.com]
Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity
[genecards.org]
The right eye shows marked hypoplasia of the anterior iris stroma.
[entokey.com]
Iris hypoplasia and aorticopulmonary septal defect. J AAPOS. 2005;9:265–267. 18. Marinas ID, Marinas R, Pirici I, Mogoanta L.
[journals.lww.com]
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent.
[doi.org]
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. Clin Dysmorphol. 1999;8:269–276. 9.
[journals.lww.com]
Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity
[uniprot.org]
posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface.
[uniprot.org]
Additional ocular abnormalities may exist including iris hypoplasia and iridodonesis.
[indianpediatrics.net]
The authors classified the megalocornea-mental retardation syndromes into 5 types: type 1 was Neuhauser syndrome, with iris hypoplasia and minor anomalies.
[omim.org]
The heterogeneity of this syndrome led Verloes to suggest 5 subtypes: 15 Subtype 1: a recessive form, as described by Neuhauser, with iris hypoplasia and minor anomalies;
[scielo.br]
Ocular findings include iris translucency, foveal hypoplasia, hypopigmentation of the fundus and excessive crossing of the nerves from the eye to the brain.
[orpha.net]
PAX6 pathogenic variants can result in infantile nystagmus and foveal hypoplasia in individuals with only mild iris hypoplasia (see Aniridia ).
[ncbi.nlm.nih.gov]
XLOA is characterized by infantile nystagmus, reduced visual acuity, hypopigmentation of the iris pigment epithelium and the ocular fundus, and foveal hypoplasia.
[ncbi.nlm.nih.gov]
[…] stroma Shallow anterior chamber Rieger anomaly Enlarged cisterna magna Posterior embryotoxon Hypoplasia of the iris Congenital glaucoma Cerebellar vermis hypoplasia Aortic
[mendelian.co]
[…] thickening Anophthalmia Abnormality of retinal pigmentation Abnormal choroid morphology Abnormality of the retinal vasculature Abnormal anterior chamber morphology Aplasia/Hypoplasia
[mendelian.co]
Dysdiadochokinesis Hypoplasia of the iris Sclerocornea Lens subluxation Tremor X-linked inheritance Progressive visual loss Abnormality of mitochondrial metabolism Hypoplasia
[mendelian.co]
Head And Neck Eyes: iris hypoplasia optic disc coloboma Growth Height: dwarfism, severe antenatal Genitourinary External Genitalia Female: normal female genitalia Skeletal
[malacards.org]
A severe form of congenital dwarfism, general chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, hypoplastic iris, and coloboma of the optic disc.
[accessanesthesiology.mhmedical.com]
They both have severe dwarfism. antenatal in origin, with generalized chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, a hypoplastic iris and a papillous
[journals.lww.com]
The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria
[mendelian.co]
Nystagmus, decreased iris pigment, translucent iris, foveal hypoplasia, strabismus, white hair and skin, translucent iris, nystagmus, photophobia, high refractive erros/AR
[eyewiki.org]
Iridogoniodysgenesis, Type 1 ASGD3 IGDA IRID1 601631 Genetic Test Registry Anterior Segment Dysgenesis 4 IRID2 Iridogoniodysgenesis Syndrome Iridogoniodysgenesis, Type 2 Iris
[ukgtn.nhs.uk]
Ocular abnormalities mainly affect the iris: hypoplasia, corectopia or hole formation in the iris mimicking polycoria; cornea: prominent and anteriorly displaced Schwalbe's
[orpha.net]
hypoplasia, ranging from mild iris hypoplasia to a rudimentary iris stump.
[aao.org]
and optic nerve hypoplasia (underdeveloped optic nerve).
[childrensnational.org]
Examination showed fine nystagmus, iris transillumination, foveal hypoplasia, and corrected visual acuity of 20/25 in each eye.
[ncbi.nlm.nih.gov]
We report two siblings, a male and female, with minimal, if any, pigmentation of skin and hair, iris transillumination defects, blond fundi, and hypoplasia of the foveae and
[ncbi.nlm.nih.gov]
Other nonspecific findings include iris transillumination defects, fundus hypopigmentation, and hypoplasia of the fovea and the optic nerve head.
[healio.com]
hypoplasia, iris coloboma, and tapetoretinal degeneration.
[dubowitzsyndrome.net]
hypoplasia, coloboma, and ocular albinism).
[accessanesthesiology.mhmedical.com]
[…] characteristics and may include short palpebral fissures, telecanthus, ptosis, blepharophimosis, epicanthal folds, sparse eyebrows, microphthalmia, hyperopia, megalocornea, iris
[dubowitzsyndrome.net]
hypoplasia, congenital hypotonia, non-progressive ataxia, progressive cerebellar atrophy, and mental retardation.
[ghr.nlm.nih.gov]
Swiss-Prot for ITPR1 Gene - elite association - COSMIC cancer census association via MalaCards Gillespie syndrome (GLSP) [MIM:206700]: A rare disease characterized by bilateral iris
[genecards.org]
Nystagmus, decreased iris pigment, translucent iris, foveal hypoplasia, strabismus, white hair and skin, translucent iris, nystagmus, photophobia, high refractive erros/AR
[eyewiki.org]
Nystagmus, decreased iris pigment, translucent iris, foveal hypoplasia, strabismus, white hair and skin, translucent iris, nystagmus, photophobia, high refractive erros AR
[eyewiki.aao.org]
Iridogoniodysgenesis, Type 1 ASGD3 IGDA IRID1 601631 Genetic Test Registry Anterior Segment Dysgenesis 4 IRID2 Iridogoniodysgenesis Syndrome Iridogoniodysgenesis, Type 2 Iris
[ukgtn.nhs.uk]
Hypoplasia of the iris: the aniridia spectrum. Int Pediatr 1990;5:275–278. Google Scholar 148. Tso MM, Goldberg MF, Sugar J.
[link.springer.com]
Aniridia (Iris Hypoplasia) Aniridia is a bilateral congenital disease that presents with absence of the iris (commonly a rudimentary iris stump exists), cataracts, glaucoma
[eyewiki.aao.org]
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol 1998;125:98–100. PubMed Google Scholar 4.
[link.springer.com]
Nystagmus, decreased iris pigment, translucent iris, foveal hypoplasia, strabismus, white hair and skin, translucent iris, nystagmus, photophobia, high refractive erros AR
[eyewiki.aao.org]
Nystagmus, decreased iris pigment, translucent iris, foveal hypoplasia, strabismus, white hair and skin, translucent iris, nystagmus, photophobia, high refractive erros/AR
[eyewiki.org]
Approximately 25% suffer from congenital cataracts and other eye abnormalities include pigmentary retinopathy and iris hypoplasia.
[embryology.med.unsw.edu.au]
[…] syndrome; iris hypoplasia, corectopia CYP1B1 ARS associated with protruding umbilicus and dental anomalies LAMB2 Pierson syndrome; iris hypoplasia, ectropion uvea, posterior
[entokey.com]
Hypoplasia of the iris was seen and an ectopic pupil with pseudopolycoria was seen.
[djo.org.in]
It has the typical findings of anterior segment dysgenesis including anterior displacement of Schwalbe's line, iris stromal hypoplasia, correctopia, and, of course, glaucoma
[disorders.eyes.arizona.edu]
Glaucoma is a common finding as is some iris hypoplasia. Despite some clinical similarities, this is likely a unique disorder.
[disorders.eyes.arizona.edu]
Ocular abnormalities mainly affect the iris: hypoplasia, corectopia or hole formation in the iris mimicking polycoria; cornea: prominent and anteriorly displaced Schwalbe's
[orpha.net]
Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3.
[disorders.eyes.arizona.edu]
[…] syndrome; iris hypoplasia, corectopia CYP1B1 ARS associated with protruding umbilicus and dental anomalies LAMB2 Pierson syndrome; iris hypoplasia, ectropion uvea, posterior
[entokey.com]
This results in iris hypoplasia, and strands running from the iris to the posterior surface of the cornea (synechiae).
[fdna.health]
Hypoplasia of the iris is common and when progressive may result in an ectopic pupil and/or pseudopolycoria.
[disorders.eyes.arizona.edu]
[…] syndrome; iris hypoplasia, corectopia CYP1B1 ARS associated with protruding umbilicus and dental anomalies LAMB2 Pierson syndrome; iris hypoplasia, ectropion uvea, posterior
[entokey.com]
hypoplasia, (B) Pseudopolycoria, (C)- A S OCT demonstrating iris hypoplasia and peripheral iris iridocorneal adhesions Figure 4: (4A),(4B) Gonioscopy of both eyes demonstrating
[djo.org.in]
It has the typical findings of anterior segment dysgenesis including anterior displacement of Schwalbe's line, iris stromal hypoplasia, correctopia, and, of course, glaucoma
[disorders.eyes.arizona.edu]
A thin rim of iridal tissue (arrow) results in a fixed and dilated appearance of the pupil, consistent with iris hypoplasia (A).
[scielo.br]
[…] abnormality is specific and seems pathognomonic of Gillespie syndrome.[6] The aniridia consisting of a superior coloboma and inferior iris hypoplasia, foveomacular dysplasia
[en.wikipedia.org]
The abnormal iris is bilateral, with a highly-specific scalloped inner margin, due to hypoplasia of the central constrictor pupillae fibers.
[radiopaedia.org]
Conclusion: The clinical findings of corneal endothelial dystrophy, iris hypoplasia, congenital cataracts, and corneal stromal thinning establish the EDICT syndrome as a unique
[iovs.arvojournals.org]
December 2002 Volume 43, Issue 13 Free ARVO Annual Meeting Abstract | December 2002 Endothelial Dystrophy, Iris Hypoplasia, Congenital Cataract, and Stromal Thinning (EDICT
[iovs.arvojournals.org]
PURPOSE: To localize a gene causing a newly described autosomal dominant anterior segment dysgenesis characterized by corneal endothelial dystrophy, iris hypoplasia, congenital
[ncbi.nlm.nih.gov]
