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PubMed1999

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.

Joubert syndrome is a rare developmental defect of the cerebellar vermis, with autosomal recessive inheritance. The phenotype is highly variable and may include episodic hyperpnea, abnormal eye movements, hypotonia, ataxia, developmental delay, and mental retardation. Even within sibships the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of Joubert syndrome. To genetically localize the gene region, we have performed a whole-genome scan in two consanguineous families of Arabian/Iranian origins, with multiple affected probands. In one family, we detected linkage to the telomeric region of chromosome 9q, close to the marker D9S158, with a multipoint LOD score of Z=+3.7. The second family did not show linkage to this region, giving a first indication of genetic heterogeneity underlying Joubert syndrome. These findings were supported by subsequent analysis of two smaller families-one compatible with linkage to 9q; the other, unlinked. We conclude that Joubert syndrome is clinically and genetically heterogeneous and that one locus maps to chromosome 9q.

Abnormalities, Multiple↗
PubMedDate not supplied

A case of Joubert's syndrome with extensive cerebral malformations.

Joubert's syndrome is a relatively rare, autosomal-recessive syndrome defined by vermis hypoplasia, hypotonia, developmental delay and at least one of two additional manifestations: abnormal breathing pattern or abnormal eye movements. Detailed descriptions of the neuropathological findings in this syndrome are scarce. We present a radiological and pathological correlation of a case of Joubert's syndrome in which, apart from the classic vermis aplasia and some malformations of the brain stem and the spinal cord, extensive malformations of the cerebrum were found. The dentate nuclei were broken into islands and showed a few heterotopias within the superior cerebellar pedunculi, the inferior olives were plump and dysplastic, and an almost complete absence of the pyramidal decussation was found. In the spinal cord, the dorsal columns were located in a dorsal position within the spinal grey matter. In the cerebrum, absence of the corpus callosum was found. Many nodular heterotopias of the cerebral cortex and of the basal ganglia, the amygdala and the diencephalon were observed. The present case is compared to previous pathological descriptions of the Joubert syndrome and to other syndromes with comparable malformations of the posterior fossa.

Abnormalities, Multiple↗
PubMed1976

Ketoprofen in rheumatoid arthritis: its tolerance and therapeutic effect.

Four studies on ketoprofen [2-(3 Benzoylphenyl) propionic acid, 19583 R.P., Orudis, Profenid N.D.] have been carried out to establish whether it is well tolerated and effective in the treatment of patients with rheumatoid arthritis. Firstly a comprehensive open clinical and biological monitoring study was undertakin in 11 patients who received ketoprofen for an average period of 20 months without any serious or persistent adverse clinical reaction or adverse change in standard laboratory investigations. The second study involved the same patients who were also included in an ophthalmic screening study for drug toxicity. This established that no eye abnormalities attributable to ketoprofen occurred during this period of treatment. These tolerance studies were then followed by two comparative double-blind cross-over trials of ketoprofen in 117 patients with "definite" rheumatoid arthritis. One of them confirmed the significantly superior analgesic effect compared with placebo and showed that the incidence of adverse reactions was similar. The other trial showed that comparing ketoprofen 150 mg daily and indomethacin 100 mg daily the clinical effects of the two drugs were the same in 8 out of 10 indices. Only in severity of pain and rescue drug count was there a significant difference favouring indomethacin. Adverse reactions were more frequent with indomethacin despite prior exclusion from the study of patients known to be intolerant of indomethacin. It was concluded that on this evidence ketoprofen is a clinically active and well tolerated drug which should be valuable in the management of rheumatoid arthritis.

Adult↗
PubMed2000

Prognostic significance of eye changes in cerebral malaria.

AIMS: Eye in Plasmodium falciparum malaria are described by various workers all over the world but its prognostic significance is not clear because of conflicting observation by different authors from different regions. No such study is available on Indian adult patients of cerebral malaria. So we want to describe our observations on various eye abnormalities in these patients and study its prognostic significance. METHODOLOGY: Two hundred and fourteen adult (> 14 years) patients of strictly defined cerebral malaria admitted in classified malaria ward in this tertiary level health care station were studies. Detailed ophthalmoscopic examination was done through dilated pupils at the time of admission, daily thereafter, at the time of discharge and at weekly intervals in those with persistent changes at the time of discharge. RESULT: Retinal haemorrhage was found in 25 (11.68%) patients, papilloedema in 17 (7.94%), blurring of disc margins in 25 (11.68%), retinal oedema in six (2.8%), disc pallor in five (2.33%), vitreous haemorrhage and hard exudate in one (0.46%) each and subconjunctival haemorrhage in six (2.8%) patients. The mortality associated with individual finding was not statistically significant except disc pallor. CONCLUSION: None of the above finding except disc pallor (p < 0.05) was associated with statistically significant mortality (p > 0.05); whereas any of the fundus findings as a whole was related to statistically significant mortality (p < 0.05).

Adolescent↗
PubMedDate not supplied

Hemifacial infantile hemangioma with intracranial extension: a rare entity.

Intracranial hemangiomas are uncommon, especially in the absence of diffuse hemangiomatosis or the syndrome consisting of posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities, sternal clefting, and/or supra-umbilical raphe (PHACES). We saw an 8-month-old ex-premature girl with a large left-sided ocular and facial hemangioma that had been growing since early infancy. Examination revealed a 7 x 13 cm violaceous tumor involving the left periocular region and face. Ophthalmologic examination revealed deprivation amblyopia, anisometropia with myopia and astigmatism. Magnetic resonance imaging demonstrated a vascular tumor mass involving the scalp, face, and calvarium with extension into the orbit, infratemporal fossa, nasopharynx, lateral medullary cistern, internal auditory canal, and fourth ventricle. Marked enhancement was seen with contrast, and no posterior fossa malformations were noted. She was treated with prednisolone, which was tapered over 12 months. Follow-up magnetic resonance imaging examination at 25 months showed a marked decrease in the size of all lesions, with residual hemangioma in the periorbital soft tissues and small foci in the orbit and intracranial sites. The brain and ventricular system were normal. Intracranial hemangioma may occur in the setting of a large facial hemangioma (especially segmental) in the absence of the PHACES syndrome or diffuse hemangiomatosis. Radiological imaging should be considered to assess for intracranial hemangioma as well as posterior fossa or arterial anomalies.

Amblyopia↗
PubMed2004

Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.

Joubert syndrome (JS) is a rare autosomal recessive malformation syndrome, involving dysgenesis of the cerebellar vermis with accompanying brainstem malformations (comprising the molar tooth sign). JS is characterized by hypotonia, developmental delay, intermittent hyperpnea and apnea, and abnormal eye movements. A single locus for JS was previously identified on 9q34 in a consanguineous family of Arabian origin. However, linkage to this locus has subsequently been shown to be rare. We have ascertained 35 JS pedigrees for haplotype segregation analysis of genetic loci for genes with a putative role in cerebellar development. We examined the ZIC1 gene as a functional candidate for JS as Zic1(-/-) null mice have a phenotype reminiscent of JS. We undertook mutational analysis of ZIC1 by standard mutational analysis (dideoxy-fingerprinting (ddf)) of 47 JS probands, and fully sequenced the coding region in five of these probands. By these means, ZIC1 was excluded from playing a causal role in most cases of JS as no disease-associated mutations were identified. Further, linkage to the ZIC1 genetic locus (3q24) was excluded in 21 of 35 pedigrees by haplotype segregation analysis of closely spaced markers. The remaining 14 of 35 pedigrees were consistent with linkage. However, this number does not significantly depart from that expected by random chance (16.5) for this cohort. Therefore, this systematic approach has been validated as a means to prioritize functional candidate genes and enables us to confine mutational analysis to only those probands whose segregation is consistent with linkage to any given locus.

Abnormalities, Multiple↗
PubMed2006

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The association of retinal dystrophy and renal anomalies defines JS type B. JS is a genetically heterogeneous condition with mutations in two genes, AHI1 and CEP290, identified to date. In addition, NPHP1 deletions identical to those that cause juvenile nephronophthisis have been identified in a subset of patients with a mild form of cerebellar and brainstem anomaly. Occipital encephalocele and/or polydactyly have occasionally been reported in some patients with JS, and these phenotypic features can also be observed in Meckel-Gruber syndrome (MKS). MKS is a rare, autosomal recessive lethal condition characterized by central nervous system malformations (typically, occipital meningoencephalocele), postaxial polydactyly, multicystic kidney dysplasia, and ductal proliferation in the portal area of the liver. Since there is obvious phenotypic overlap between JS and MKS, we hypothesized that mutations in the recently identified MKS genes, MKS1 on chromosome 17q and MKS3 on 8q, may be a cause of JS. After mutation analysis of MKS1 and MKS3 in a series of patients with JS (n=22), we identified MKS3 mutations in four patients with JS, thus defining MKS3 as the sixth JS locus (JBTS6). No MKS1 mutations were identified in this series, suggesting that the allelism is restricted to MKS3.

Abnormalities, Multiple↗
PubMed2002

Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.

Joubert syndrome (JS) is a rare autosomal recessive malformation syndrome involving agenesis or dysgenesis of the cerebellar vermis with accompanying brainstem malformations. JS is further characterized by hypotonia, developmental delay, intermittent hyperpnea, and abnormal eye movements. The biochemical and molecular basis of JS remains unknown, although several genes that are crucial in the development of the cerebellum have been proposed as attractive candidate genes. JS is clinically heterogeneous; this, together with previous linkage analyses, suggests that there may also be genetic heterogeneity. A locus for JS was previously identified on chromosome 9q34 by linkage analysis in a consanguineous family of Arabian origin. A putative second JS locus was recently suggested when a deletion on chromosome 17p11.2 was observed in a patient with Smith-Magenis syndrome and JS phenotype. We have investigated a cohort of apparently unrelated North American JS pedigrees for association with the loci on chromosomes 9q34 and 17p11.2 and excluded them in all cases where data were informative. Analysis of an additional 21 unrelated JS patients showed no evidence of homozygosity at the 9q34 and 17p11.2 loci that would suggest inheritance of founder JS mutation(s) or unreported consanguinity. Together, these data suggest that one or more major loci for JS remain to be identified. Consequently, we undertook mutation analysis of several functional candidate genes, EN1, EN2, and FGF8, in a total of 26 unrelated JS patients. Our data suggest that all of these genes may be excluded from a direct pathogenic role in JS. The BARHL1 gene, which localizes to chromosome 9q34 and has previously been proposed as a strong positional candidate gene for JS, was also investigated and excluded from involvement in JS that is linked to chromosome 9q34.

Abnormalities, Multiple↗
PubMed1998

Olfactory bulb development is altered in small-eye (Sey) mice.

Small-eye (Sey) is a spontaneous, semidominant murine mutation that results from a point mutation in the Pax-6 gene. Both the eyes and the olfactory system fail to develop in homozygotes and these animals die neonatally. Heterozygotes (Sey/+) have different degrees of eye abnormalities including decreased lens size and cataracts. In the present study, we examined whether one mutated allele of Pax-6 also affects olfactory system development. By 42 days of age, main olfactory bulb volume was significantly decreased in Sey/+ animals compared with wild-type littermates, and this effect was even more dramatic in 70-day-old animals. In contrast, there was no effect on accessory olfactory bulb, olfactory epithelial, or vomeronasal organ development at any age in Sey/+ animals, demonstrating the specificity of the effect. In the main olfactory bulb, the largest differences in laminar volume were found in the glomerular and granule cell layers. These layers contain the olfactory bulb interneurons, and a subpopulation of these cells were found to be Pax-6 immunoreactive. Examination of the neurochemical consequences of this mutation showed that the number of both tyrosine hydroxylase (TH)- and gamma-aminobutyric acid (GABA)-immunoreactive profiles were dramatically decreased in Sey/+ animals as compared with controls. In contrast, neither calretinin nor calbindin immunoreactivity was affected by this mutation. Dual-labeling immunohistochemistry showed that nearly all TH-immunoreactive cells and a subpopulation of GABA-immunoreactive cells coexpressed Pax-6. However, calretinin- and calbindin-immunoreactive cells were not Pax-6 immunopositive. These data indicate that two normal alleles of Pax-6 are required for normal olfactory bulb development and, as part of this effect, this gene may be involved in the development of specific neurotransmitter systems.

Aging↗
PubMed2005

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

BACKGROUND: Joubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar tooth sign (MTS) on cranial MRI. Four genetic loci have been mapped, with two genes identified (AHI1 and NPHP1). METHODS: We screened a cohort of 117 JS subjects for AHI1 mutations by a combination of haplotype analysis and sequencing of the gene, and for the homozygous NPHP1 deletion by sequencing and marker analysis. RESULTS: We identified a total of 15 novel AHI1 mutations in 13 families, including nonsense, missense, splice site, and insertion mutations, with some clustering in the WD40 domains. Eight families were consanguineous, but no single founder mutation was apparent. In addition to the MTS, retinal dystrophy was present in 11 of 12 informative families; however, no subjects exhibited variable features of JS such as polydactyly, encephalocele, colobomas, or liver fibrosis. In contrast to previous reports, we identified two families with affected siblings who developed renal disease consistent with nephronophthisis (NPH) in their 20s. In addition, two individuals with classic NPH were found to have homozygous NPHP1 deletions. CONCLUSIONS: Overall, 11% of subjects had AHI1 mutations, while approximately 2% had the NPHP1 deletion, representing a total of less than 15% in a large JS cohort. Some preliminary genotype-phenotype correlations are possible, notably the association of renal impairment, specifically NPH, in those with NPHP1 deletions. Subjects with AHI1 mutations may be at risk of developing both retinal dystrophy and progressive kidney disease.

Abnormalities, Multiple↗
PubMed2000

Benign cutaneous vascular tumors of infancy: when to worry, what to do.

OBJECTIVES: To discuss the current knowledge regarding complicated hemangiomas (cervicofacial, periorbital, lumbosacral, and parotid), including the associated syndromes of diffuse neonatal hemangiomatosis and PHACES (posterior fossa malformations, most commonly of the Dandy-Walker variant; hemangiomas [especially large, plaquelike, facial lesions]; arterial anomalies; cardiac anomalies and coarctation of the aorta; eye abnormalities; and sternal cleft and/or supraumbilical raphe). To discuss 2 newly recognized entities that may be a source of diagnostic confusion with the common hemangioma, the kaposiform hemangioendothelioma and tufted angioma. To discuss the risks and benefits of current treatment options, including the use of systemic corticosteroids and interferon in necessary situations. DATA SOURCES: The pertinent world literature was reviewed and incorporated into experience from our pediatric dermatology practice at the University of Texas Medical School at Houston. CONCLUSIONS: The common hemangioma, kaposiform hemangioendothelioma, and tufted angioma, though benign histologically, may cause serious consequences for children. Dermatologists should be able to recognize unique clinical presentations of these lesions and obtain further diagnostic evaluation accordingly. Dermatologists should also be aware of available treatment options, including the use of systemic chemotherapy in life-threatening situations.

Abnormalities, Multiple↗
PubMed2004

Association of solitary, segmental hemangiomas of the skin with visceral hemangiomatosis.

BACKGROUND: Multiple hemangiomas of the skin have traditionally been recognized as a clue to potential visceral hemangiomas. Recently, hemangiomas have been recognized to have subcategories, localized and segmental, which correlate with risk of complications. While less common, segmental hemangiomas of the skin have a higher risk of being life- or function-threatening and/or having associated structural anomalies such as those that occur in PHACE (posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities) syndrome (PHACES, if sternal clefting/supraumbilical raphe is included). However, the potential association of solitary, segmental hemangiomas of the skin with visceral hemangiomatosis has not been previously emphasized. OBSERVATIONS: A total of 47 cases of segmental hemangiomas of the skin in association with visceral hemangiomatosis were found. The location of the cutaneous hemangiomas most commonly, but not exclusively, involved the face (37 cases [79%]). The most common site of internal organ involvement was the liver (20 cases [43%]), followed by the gastrointestinal tract (16 [34%]), brain (16 [34%]), mediastinum (9 [19%]), and lung (7 [15%]). The percentages of reported cases of hemangiomas of the pancreas, spleen, bones, or kidneys were 6% or less. Forty percent of patients met criteria for the diagnosis of PHACE(S) syndrome. In this subgroup, internal organ hemangiomas were most commonly found in the brain or mediastinum (18 cases [53%]). Overall, 12 patients (25%) died during infancy, most commonly because of gastrointestinal involvement or congestive heart failure secondary to liver involvement. Conclusion Segmental hemangiomas of the skin have an associated risk of visceral hemangiomatosis, with the potential of causing vital organ compromise.

Central Nervous System Venous Angioma↗
PubMed2006

Triplopia: thirteen patients from a neurology inpatient service.

BACKGROUND: Seeing triple is a rare complaint, so anatomically unlikely that it is often considered a diagnostic symptom of hysteria. OBJECTIVE: To evaluate the complaint of triple vision among a large group of neurological inpatients. DESIGN: Personal case series during a 34-year period. SETTING: Neurology and neurosurgery wards of the University of Southern California-Los Angeles County Medical Center. Patients Thirteen patients who reported seeing objects in triplicate. RESULTS: Eleven of 13 patients had ocular motor findings, including third nerve palsy in 5 patients, internuclear ophthalmoplegia in 4, and sixth nerve palsy in 2. Causes included brainstem infarction in 4 patients; ischemic mononeuropathy, trauma, surgery, and hysteria in 2 patients each; and tumor in 1 patient. CONCLUSION: Triplopia is a rare complaint that, in a neurology inpatient service, often represents an unusual interpretation of abnormal eye movements.

Adult↗
PubMed1998

Visual outcomes following lensectomy and vitrectomy for combined anterior and posterior persistent hyperplastic primary vitreous.

OBJECTIVE: To determine the visual outcome after surgery for persistent hyperplastic primary vitreous using modern vitreoretinal techniques. DESIGN: Retrospective medical record review during a 5-year period (June 1992 to June 1997). Information recorded for each patient included age, medical history, sex, results of preoperative ocular examination, age at diagnosis, procedure performed, intraoperative and postoperative complications, location and number of sclerotomy sites, type of aphakic rehabilitation, amblyopic therapy given, final visual acuity, and length of follow-up. RESULTS: Fourteen patients who underwent surgical management of combined anterior and posterior persistent hyperplastic primary vitreous were identified. Eleven patients underwent aphakic rehabilitation and aggressive amblyopic therapy consisting of occlusive therapy for several waking hours each day. One additional older patient received aphakic rehabilitation only. Ten eyes (71%) achieved a visual acuity of 20/300 or better, and 8 (57%) obtained a final visual acuity of 20/100 or better. Average length of follow-up was 22 months (range, 4-57 months). Nine patients were fitted with an aphakic soft contact lens, 2 older patients had a posterior chamber intraocular lens placed at the time of vitrectomy, and 1 patient wore aphakic spectacles. CONCLUSIONS: With modern vitreoretinal techniques, aphakic rehabilitation, and aggressive amblyopic therapy, useful vision can be obtained in the majority of patients with combined anterior and posterior persistent hyperplastic primary vitreous.

Amblyopia↗
PubMed1999

Retinal hamartoma in oral-facial-digital syndrome.

Only recently have intraocular findings been described in oral-facial-digital syndrome (OFDS), including 5 cases of chorioretinal colobomas and 1 case of optic nerve coloboma. We report a case of a new ocular anomaly associated with this syndrome: a retinal hamartoma in a male infant with OFDS. The patient had bilateral retinal masses that were suspicious for retinoblastoma because of a family history of retinoblastoma. Physical examination and imaging studies of the retinal masses could not differentiate between retinoblastoma, hamartoma, or persistent hyperplastic primary vitreous. Subsequent pathologic study of an enucleated globe was diagnostic of a retinal hamartoma. This case further illustrates the heterogeneity of ocular anomalies in OFDS and underscores the importance of a complete ophthalmologic evaluation in patients with this syndrome.

Eye Abnormalities↗
PubMed2000

Maternal intrauterine herpes simplex virus infection leading to persistent fetal vasculature.

Herpes simplex virus can cause serious ocular and systemic disease in the neonate. The mode of transmission to the neonate is usually from the maternal birth canal to the fetus intrapartum; but much more rarely, hematogenous transplacental infection can affect the developing fetus months prior to birth. Persistent fetal vasculature occurs when there is persistence of the fetal ocular vasculature, which normally regresses prior to birth. To our knowledge, we report the first case of serologically proven intrauterine herpes simplex virus infection associated with bilateral persistent fetal vasculature in a surviving term infant. Arch Ophthalmol. 2000;118:837-840

Adult↗