Weiner, Bernard Gonik, Caroline Crowther, and Stephen Robson present an evidence-based approach to the available management options, equipping you with the most appropriate strategy for each patient. [books.google.com]

The unifying pathognomonic sign is a cerebellar vermis hypoplasia presenting in MRI as the so called “molar tooth sign”. Approximately 25% of patients with JS present with NPH depending on the underlying genetic defect. [neocyst.de]

Clinical features The most common presenting signs are leukoria (white papillary reflex due to a dense retrolenticular membrane or cataractous lens), microphthalmia and cataract, but the clinical presentation may vary. [institut-vision.org]

Ocular manifestations : patients usually present with marked decrease in vision. [ijem.in]

Renal malformations and/or insufficiency are frequently the presenting feature and consist of small and abnormally formed kidneys known as renal hypodysplasia. [orpha.net]

• Respiratory Distress

  It is characterized by cerebellar vermis hypoplasia, cerebellar ataxia, muscular hypotension, oculomotor apraxia, neonatal respiratory distress, mental retardation as well as retinal degeneration. [neocyst.de]

• Abdominal Pain

  The clinical features of chronic adrenal insufficiency include weakness, fatigue, tiredness, gastrointestinal symptoms like nausea, vomiting, abdominal pain and diarrhea, salt craving, and joint pains. [ijem.in]

• Flexion Contracture

  […] syndrome) 214150 AR 19q13.2-q13.3 (XPD); 13q33; 10q11 (ERCC6) Neurogenic arthrogryposis; cataract; microcephaly; brain malformation; blepharophimosis; hirsutism; kyphoscoliosis; osteoporosis; renal defects; large pinna; wide-spaced nipples; verticle talus; flexion [entokey.com]

• Dermatitis

  Página 54 - Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. ‎ Página 51 - Selective IgA deficiency: presentation of 30 cases and a review of the literature. ‎ [books.google.es]

  Disability Syndrome AR 100 5 of 5 MIP Cataract Multiple Types AD 100 29 of 29 MIR184 Edict Syndrome AD na na MIR204 Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract AD na na MSMO1 Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis [igenomix.es]

  Whether they had childhood ichthyosiform dermatitis or coagulation abnormalities could not be assessed with certainty. Progressive ataxic gait and visual impairment began in early childhood. [bmcmedgenet.biomedcentral.com]

• Hyperkeratosis

  The main types of keratinopathic ichthyoses are: Epidermolytic ichthyosis * KRT1, KRT10 Superficial epidermolytic ichthyosis ¶ KRT2 Ichthyosis Curth-Macklin§ KRT1 Congenital reticular ichthyosiform erythroderma * Previously called epidermolytic hyperkeratosis [dermnetnz.org]

• Esotropia

  [from OMIM] Show allHide all Abnormality of the eye Cataract Coloboma of optic nerve Esotropia Exotropia Hypertropia Iris coloboma Lens subluxation Nystagmus Reduced visual acuity Retinal coloboma IMPORTANT NOTE: NIH does not independently verify information [ncbi.nlm.nih.gov]

  A 3-1/2-month-old white male manifested left esotropia since birth. On examination, visual acuity was fix-and-follow in both eyes. Slit-lamp exam of both eyes disclosed bilateral leukocoria and 30 prism diopters of alternating esotropia (Figure 1A). [retinatoday.com]

  Swann's syndrome An esotropia in which the angle of deviation is such that the retinal image of the fixation object in the deviated eye falls on the optic disc. Syn. blind spot esotropia; syndrome, blind spot. [medical-dictionary.thefreedictionary.com]

  Corneal clouding Buphthalmos (abnormally large eyeball) Esotropia (eye deviates inward) Slight ptosis (droopy eyelids) Pigmentary retinopathy Optic atrophy Laurence-Moon-Bardet-Biedl Syndrome This is an autosomal recessive condition that is characterized [tsbvi.edu]

  ESOTROPIA: Misalignment of eye in which one or both eyes deviate inward. EXOTROPIA: Misalignment of eye in which one or both eyes deviates outward (away from nose). [aph.org]

• Visual Acuity Decreased

  Functional visual problems include: loss of peripheral vision night blindness tunnel vision decreased visual acuity decreased depth perception RETINOBLASTOMA: Malignant tumor within the eye. [aph.org]

• Paresis

  The ocular signs include blue sclera, eye elongation and myopia, angioid streaks, ectopia lentis, keratoconus and retinal detachment. exfoliation syndrome See pseudoex-foliation syndrome. fallen eye syndrome A condition occurring after a prolonged paresis [medical-dictionary.thefreedictionary.com]

• Cryptorchidism

  PMID: 3994576 Bilateral microphthalmia, esophageal atresia, and cryptorchidism: the anophthalmia-esophageal-genital syndrome. Shah D, Jones R, Porter H, Turnpenny P. Am J Med Genet. 1997 May 16;70(2):171-3. [bredagenetics.com]

  Genitourinary abnormalities include cryptorchidism (in 60% of males), uterine abnormalities, hypospadias, ambiguous genitalia, streak ovaries, urethral strictures, ureteric abnormalities, and gonadoblastoma. [eyewiki.aao.org]

  […] fissures, camptodactyly, MR, prenatal growth deficiency, microcephaly, heart & renal malformations 13q-, 13 ring Microcephaly with MR (brain abnormalities; high nasal bridge; bilateral retinoblastoma; thumb hypoplasia; cardiac defects; hypospadias, cryptorchidism [entokey.com]

The diagnosis of coloboma by an ophthalmologist should prompt a careful systemic workup and family history. Support provided by the Eye Tumor Research Foundation, Philadelphia, PA (CLS). The authors have no financial interests to disclose. [retinatoday.com]

[…] performed. [3] If there is an affected parent it is unlikely that the child has a deletion extending to WT1, although rare cases have been reported. [3] Tests Table 1: Genetic Tests for Aniridia by Phenotype and Family history [3] Testing Strategy Clinical Workup [eyewiki.aao.org]

Prepare for clinical challenges and save time in addressing them thanks to expert advice on treatment options from international contributors. [books.google.com]

Management and treatment Management involves care for the renal and ophthalmologic manifestations. [orpha.net]

TREATMENT There is no definitive treatment available for JS. Treatment is supportive and symptom specific. [secure.ssa.gov]

Treatment of Microphthalmia and Anophthalmia Can microphthalmia and anophthalmia be treated? There is no treatment at this time for severe microphthalmia or anophthalmia that will restore a person's vision or create a new eye for them. [disabled-world.com]

Treatment of chronic renal failure with renal replacement therapy and renal transplantation. In case of hepatic failure liver transplantation might be necessary. Known genes for Joubert syndrome to date sources Romani M, Micalizzi A, Valente EM. [neocyst.de]

Hornby et al 7 have shown that microphthalmos with cyst had the worst prognosis, coloboma with microcornea and microphtalmos had a poor prognosis, coloboma with microcornea had an intermediate prognosis, and simple coloboma had the best prognosis. [nature.com]

Prognosis Prognosis depends primarily on appropriate specialized treatment. Renal failure can occur at any age requiring dialysis and renal transplantation. Formal longitudinal studies of visual prognosis have not been carried out. [orpha.net]

Prognosis Prognosis is variable and depends on the presence and severity of associated cardiovascular, neurological and other complications. [patient.info]

ICD-9: 759.89 ONSET AND PROGRESSION Prognosis for children with Joubert Syndrome depends on the severity of the condition. The prognosis for infants with JS depends on whether or not the cerebellar vermis is partially developed or entirely absent. [secure.ssa.gov]

Prognosis Visual prognosis is usually guarded as the disease is often progressive. Early surgery may result in relatively good visual results in selected patients. [institut-vision.org]

Etiology Mutations in the PAX2 gene (10q24) have been identified in about 1/2 of patients with renal hypodysplasia and abnormalities of the optic nerve. [orpha.net]

Etiology and pathogenesis During embryonic development of the eye, the compartment between the retina and crystalline lens contains a vascular system (hyaloid artery) that provides nutrients for the developing eye. [institut-vision.org]

The etiology is probably an autoimmune attack on the corneal epithelium. [ijem.in]

This high rate has attracted the attention of investigators to find its etiology. Ghiasvand and colleague found an autosomal recessive pattern of inheritance among the affected patients of this village [12]. [emro.who.int]

The etiology of this retinal dysfunction remains unclear. Perhaps it may be due to foveal aplasia or hypoplasia, secondary to PAX6 mutation or phototoxicity as a result of iris maldevelopment. [eyewiki.aao.org]

Epidemiology, onset & clinical features Epidemiology Though the exact prevalence remains unknown, PHPV is considered to be not a very rare disease. [institut-vision.org]

Summary Epidemiology Prevalence and prevalence at birth are not known. 177 mutation-positive cases (90 different families) have been reported. The number of mutation-negative individuals with clinical findings of RCS is not known. [orpha.net]

Epidemiology Incidence is approximately 1 in 35,000 to 1 in 56,000 births. However, the incidence is higher (around 1 in 1,000) in those children with congenital deafness. [ 1 ] The male:female ratio is 3:2. Most cases are sporadic. [patient.info]

To give a better estimate of the prevalence of chorioretinal coloboma, a large epidemiology study needs to be carried out using similar methodology. [journalofoptometry.org]

In accordance with the World Health Organization’s (WHO) Vision 2020 objectives, accurate ophthalmic epidemiologic data from Asia are needed to optimize the allocation of limited resources [6]. [emro.who.int]

It is recommended to examine eyes affected by chorioretinal coloboma at least annually to prevent complications such as retinal detachment. [synapse.koreamed.org]

The limbal dermoids did not obstruct the visual axis and the right upper eyelid coloboma did not prevent corneal protection with lid closure. As such, the patient's ocular condition did not require urgent intervention in the first weeks of life. [webeye.ophth.uiowa.edu]

When the cataract is significant, some authors suggest preventive lens extraction in the first few weeks of life. [institut-vision.org]

To prevent occurrence of more affected cases, people of the village should not to marry persons from the same district. [emro.who.int]

Unfortunately, we could not have access to cells from the patient and could not perform further analysis at the RNA or protein level, then preventing to exclude this possibility. [omicsonline.org]