1/132. Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome.PURPOSE: To report a 10-year-old girl with developmental anomalies of both optic disks, a chorioretinal coloboma, sphenopharyngeal meningoencephalocele, and moyamoya disease. methods: A full ophthalmologic examination, cranial magnetic resonance imaging and magnetic resonance angiography, and cerebral angiography were performed. RESULTS: The patient had a morning glory disk anomaly and microphthalmos of the right eye and optic nerve hypoplasia and retinochoroidal coloboma in the left eye. She had a midfacial cleft and an episode of seizures and a stroke. magnetic resonance imaging showed a sphenopharyngeal meningoencephalocele. magnetic resonance angiography and cerebral angiography demonstrated a pattern consistent with moyamoya disease. CONCLUSIONS: This patient had a distinct syndrome of optic disk, retinochoroidal, and carotid circulation anomalies with midline cranial defects. The recognition and treatment of the vascular abnormalities and cranial defects may prevent complications such as strokes that may occur during or after general anesthesia.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
2/132. Ophthalmic findings in GAPO syndrome.BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). CASES: This syndrome has been described in 21 patients from 16 different families. Four cases are from turkey and have been presented by Sayli and Gul. The purpose of our study is to document the cases from turkey and discuss the ophthalmological and neuro-ophthalmolgical findings of these and other reported GAPO cases. OBSERVATIONS: All patients in the literature and our 4 cases have severe growth retardation with delayed bone age in infancy, characteristic facial appearance (high and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. optic atrophy was present in 1 of our cases and in 5 previous cases. glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also observed. White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: optic atrophy is not a constant finding in GAPO syndrome. glaucoma may accompany the ocular findings. This syndrome has been attributed to either ectodermal dysplasia or the accumulation of extracellular connective tissue matrix, due to an enzyme deficiency involved in its metabolism. Current studies show that an elastin defect and secondary changes in collagen may be important in the pathogenesis of the disease.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
3/132. Bilateral abortive cryptophthalmos associated with oculocutaneous albinism.PURPOSE: To document a case of bilateral abortive cryptophthalmos associated with oculocutaneous albinism. methods: We describe a 13-year-old female patient with blond skin and hair who had anomalous face and eyes first noted at birth. RESULTS: The patient had fair hair and complexion, bilateral anomalous wedge of scalp hair, upper eyebrow and eyelid deformities, cup-shaped ears, broad based nose with depressed bridge and midline groove, iris transillumination and diffuse hypopigmentation and foveal hypoplasia in fundus examination. CONCLUSION: Based on the clinical and laboratory findings, the reported case represents tyrosinase-positive oculocutaneous albinism together with bilateral abortive cryptophthalmos. The oculocutaneous albinism can either be an entirely new criterion to the whole syndrome of cryptophthalmos, or, more probably, the condition can be due to a double affliction which is primarily related with consanguinity of the parents. The importance of ante-natal diagnosis and genetic counseling are emphasized in such cases where the two recessive genes for two different conditions coexist.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
4/132. Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia. The gene encodes a transcriptional regulator that recognizes target genes through its paired-type dna-binding domain. The paired domain is composed of two distinct dna-binding subdomains, the N-terminal subdomain (NTS) and the C-terminal subdomain (CTS), which bind respective consensus dna sequences. The human PAX6 gene produces two alternative splice isoforms that have the distinct structure of the paired domain. The insertion, into the NTS, of 14 additional amino acids encoded by exon 5a abolishes the dna-binding activity of the NTS and unmasks the dna-binding ability of the CTS. Thus, exon 5a appears to function as a molecular switch that specifies target genes. We ascertained a novel missense mutation in four pedigrees with Peters anomaly, congenital cataract, Axenfeldt anomaly, and/or foveal hypoplasia, which, to our knowledge, is the first mutation identified in the splice-variant region. A T-->A transition at the 20th nucleotide position of exon 5a results in a Val-->Asp (GTC-->GAC) substitution at the 7th codon of the alternative splice region. Functional analyses demonstrated that the V54D mutation slightly increased NTS binding and decreased CTS transactivation activity to almost half.- - - - - - - - - - ranking = 2keywords = hypoplasia (Clic here for more details about this article) |
5/132. Topless optic disk syndrome without maternal diabetes mellitus.PURPOSE: To describe four cases of topless optic disk syndrome without maternal diabetes mellitus. METHOD: Four patients had incidentally discovered inferior visual field defects. RESULTS: Ophthalmoscopic examinations in all four patients disclosed superiorly displaced entrances of the central retinal artery and thinning of the superior peripapillary nerve fiber layers. One patient had a superior peripapillary crescent with pallor of the superior disk. These clinical findings were consistent with a diagnosis of superior segmental optic hypoplasia, the topless disk. None of the patients had mothers who had diabetes. CONCLUSIONS: The topless optic disk syndrome can occur in the absence of maternal diabetes mellitus.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
6/132. CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3).We report a novel case of partial trisomy 19q and concomitant partial monosomy 21q, segregated from a maternal translocation (19;21) (q13.1;q22.3), identified by spectral karyotyping. Clinical examination revealed dysmorphic features of the face and limbs, cleft palate, bilateral colobomas with associated bilateral colobomatous optic nerve cysts, hearing loss, and a cardiac anomaly. At autopsy, the dysmorphic features and cleft palate were confirmed. The ocular histopathology is described in detail and the cardiac anomaly was further specified. The combination of phenotype features is diagnostic of the CHARGE (coloboma, heart malformation, atresia choanae, retarded growth and development, and/or CNS anomalies, genital hypoplasia, ear anomalies and/or deafness) association. This case also has some phenotypic features in common with previous cases of partial trisomy 19q. The importance of a complete autopsy in cases with multiple congenital anomalies and/or genetic abnormalities is emphasized. This will allow optimal genetic counseling and contribute to our understanding of developmental biology.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
7/132. Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: more than just variants of Joubert syndrome.Cerebellar vermis hypoplasia (CVH) is part of many different malformation syndromes, especially Joubert syndrome. However, the nosology of these disorders remains uncertain. We reviewed reports of 100 children with cerebellar vermis hypoplasia, and ocular or renal involvement. Although the status of the upper brainstem was not adequately documented in most of these patients, some had hypoplasia and dysplasia of the ponto-mesencephalic isthmus and the superior portion of the cerebellar vermis, which results in a "molar tooth" sign on MRI scan. Several distinct syndromes were apparent among this group. We conclude that (a) hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent mental retardation; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, Arima syndrome, Senior-Loken syndrome, COACH syndrome, and probably familial juvenile nephronophthisis.- - - - - - - - - - ranking = 5keywords = hypoplasia (Clic here for more details about this article) |
8/132. Rieger's syndrome: (oligodontia and primary mesodermal dysgenesis of the iris) clinical features and report of an isolated case.An 11-year-old female manifested bilateral prominent Schwalbe's line, iridal adhesions, displaced and irregular pupils. She had no evidence of juvenile glaucoma. The major nonocular finding in this patient was the congenital absence of her primary and permanent maxillary central and lateral incisors. Although missing or malformed teeth may occur in other conditions such as Down's syndrome, focal dermal hypoplasia syndrome, anhidrotic ectodermal dysplasia, chondroectodermal dysplasia, and incontinentia pigmenti, the clinician should include Rieger's syndrome in his differential diagnosis in patients with oligodontia in combination with malformation of the anterior chamber of the eye. Rieger's syndrome is a rare condition characterized by ocular and dental abnormalities, namely mesoectodermal dysgenesis of the iris and cornea of the eyes and hypodontia of the dentition. This report presents a sporadic case of Rieger's syndrome in an 11-year-old female and discusses the pertinent clinical features of this condition.- - - - - - - - - - ranking = 7.628675035728keywords = dermal hypoplasia, focal dermal hypoplasia, hypoplasia, focal (Clic here for more details about this article) |
9/132. Visual-evoked potential evidence of chiasmal hypoplasia.PURPOSE: To show that chiasmal hypoplasia or aplasia need not be an isolated developmental anomaly and to examine the spectrum of associated clinical findings to explore the possibility that these patients may represent a phenotypic manifestation of a developmental gene anomaly. DESIGN: An observational case series. PARTICIPANTS: Five infants, between several weeks and 7 months of age, in whom the electrophysiologic characteristic of chiasmal hypoplasia had been noted were included. methods: Flash electroretinography and flash and pattern visual-evoked potentials (VEPs) were elicited from all patients. Clinical ophthalmologic examinations, including funduscopy, were performed, and all patients had magnetic resonance imaging (MRI) brain scans. MAIN OUTCOME MEASURES: The occipital distribution of monocular VEP response peaks was studied. The symmetry of lateral channel responses was compared for monocular stimulation. RESULTS: All five patients had a crossed asymmetry in the monocular VEP occipital distribution, which is consistent with a paucity of fibers crossing at the chiasm. The MRI findings supported this electrophysiologic observation, illustrating degrees of chiasmal hypoplasia and variable coincidence of other midline abnormalities of the brain. Optic disc appearances varied from normal to hypoplastic and colobomatous. CONCLUSIONS: The ophthalmologic and MRI findings of five patients who showed a crossed asymmetry in monocular flash VEPs are consistent with a paucity of axons crossing at the chiasm. The similarities between achiasmia in humans and mice due to a Pax2 gene anomaly are discussed.- - - - - - - - - - ranking = 7keywords = hypoplasia (Clic here for more details about this article) |
10/132. GAPO syndrome: a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis.The case of GAPO syndrome reported here is the 24th recorded case, 23 cases having been published previously. The 29-year-old male under discussion presents all the typical features of the syndrome, having short stature, dysmorphic craniofacial features, total alopecia and pseudoanodontia. Orally, the erupted primary dentition was extremely worn and on radiographic examination, the second mandibular molars were found to be unerupted, together with the entire permanent dentition. cephalometry revealed the absence of facial pneumatisation, a deficient cranial base with diminished upper face height and maxillary and mandibular hypoplasia with a prognathic skeletal pattern. Histological examination of an extracted primary incisor and its surrounding root bone revealed extensive ankylosis. This paper describes in detail the clinical findings and reviews, and discusses previously published cases in relation to the present one. As with prior cases, parental consanguinity was present in the pedigree.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
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