[Neuro-ophthalmological and ophthalmological findings in Joubert syndrome]. / Neuroophthalmologische und ophthalmologische Befunde beim Joubert-Syndrom.

BACKGROUND: Joubert syndrome (JS) belongs to the ciliopathies and is a mostly autosomal recessively inherited disease (in the case of OFD1 mutations, JS is an X-linked trait). It is characterised by midbrain-hindbrain malformations with developmental delay, hypotonia and ataxia and a broad spectrum of other facultative findings. The aim of our study was to examine the ophthalmological and neuro-ophthalmological features of JS in our patients and to compare our findings to those of other studies. METHODS: In a retrospective study we evaluated the ophthalmological and neuro-ophthalmological findings of 9 consecutive patients who met the diagnostic criteria of JS. RESULTS: All patients had abnormalities of ocular motility, 4/9 used head thrusts to shift gaze (oculomotor apraxia OMA). In 6/8 patients, the optokinetic reflex (OKN) was absent. Furthermore, 8/9 children showed nystagmus, mostly see-saw nystagmus. Manifest strabismus was found in 8/9 while 3/9 had a retinopathy with either abnormal ERG and/or fundus appearance with or without visual impairment. Chorioretinal colobomata were present in 5/9 cases. Two patients showed a unilateral congenital ptosis, one a facial nerve paresis. CONCLUSIONS: The early neuro-ophthalmological findings in JS are not pathognonomic, but may lead to the diagnosis of JS. The syndrome should be suspected in patients with nystagmus, especially see-saw nystagmus, and abnormal OKN and/or OMA, and/or colobomata of the fundus, and further paediatric examinations should be initiated.

Complex sporadic colobomata.

Sporadic colobomata may be associated with a variety of secondary changes, and these have been classified and discussed with special reference to unusual findings published during recent years. Clinically some cases may appear to be neoplastic, and pathological examination may be important in demonstrating their true nature. A malformation apparently not previously reported is described.

Selected eye defects of special importance in pediatrics.

This article reviews six defects of special importance in the care of children: aniridia, ectopia lentis, cataracts, glaucoma, colobomata, and optic nerve hypoplasia. In addition to causing potentially serious impairment of vision, these ocular disorders may be associated with significant systemic disease and genetic abnormalities.

Chorioretinal coloboma in a paediatric population.

AIM: To determine the validity of laser photocoagulation as a prophylactic treatment in the prevention of rhegmatogenous retinal detachment (RRD) in a group of paediatric patients presenting with chorioretinal coloboma. METHODS: Observational case series of consecutive patients aged 0-15 years with chorioretinal coloboma seen in a tertiary eye hospital were reviewed. Data were analysed with SPSS version 16, a P-value of <0.05 was considered significant. RESULTS: One hundred and ninety-eight patients (335 eyes) were identified. The prevalence of retinal detachment and ocular anomalies was 17.6 and 87.2%, respectively. Ocular anomalies included iris coloboma (71%), microcornea (45.1%), nystagmus (41.5%), strabismus (21.2%), and microphthalmos (19.1%). The prevalence of retinal detachment was 2.9% in those eyes that received prophylactic laser photocoagulation, whereas the risk of retinal detachment was 24.1% in eyes left untreated. Post-operative complications following retinal detachment surgery occurred in 86.7% eyes; the most frequent being recurrent retinal detachment (53.8%). The mean duration of follow-up was 1.59 ± 0.21 years (0-7 years) and 0.79 ± 0.16 years (0-8 years) in the group that had laser and in those that were treatment naive, respectively. CONCLUSIONS: Prophylactic laser treatment appears to have a protective effect for the prevention of RRD in eyes with chorioretinal coloboma. Measures towards prophylactic therapy should be instituted to reduce the risk of retinal detachment in choroid colobomatous eyes due to the problems in the management of these retinal detachments.

Autism spectrum conditions in individuals with Möbius sequence, CHARGE syndrome and oculo-auriculo-vertebral spectrum: diagnostic aspects.

As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); Möbius sequence (Möbius), CHARGE syndrome (CHARGE) and oculo-auriculo-vertebral spectrum (OAV), autism spectrum conditions (ASCs) was diagnosed in 45%, 68% and 42% of the individuals, respectively. Diagnostic difficulties due to additional dysfunctions such as mental retardation (MR), impaired vision, reduced hearing and cranial nerve dysfunction, were experienced in all three BPC groups. The applicability of current autism diagnostic instruments, such as the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS) and the Autistic Behaviour Checklist (ABC), in individuals with ASCs and Möbius/CHARGE/OAV was analysed. Use of an extensive battery of diagnostic instruments, including both observational schedules and parent interviews, and, if possible, independent judgements from two clinicians, is essential in the diagnostics of ASCs in these individuals. Further, in individuals who are deaf and blind the applicability of current autism diagnostic instruments is highly questionable.

Classification of microphthalmos and coloboma.

A new classification of microphthalmos and coloboma is proposed to bring order to the complexity of clinical and aetiological heterogeneity of these conditions. A phenotypic classification is presented which may help the clinician to give a systematic description of the anomalies. The phenotype does not predict the aetiology but a systematic description of ocular and systemic anomalies improves syndrome identification. There are two major classes, total and partial microphthalmos, and a subclassification which follows the embryology of the anomalies. The aetiological classification consists of three classes: (1) genetic (monogenic and chromosomal), (2) prenatally acquired (teratological agents and intrauterine deformations), and (3) associations. Genetic disorders give rise to malformations; prenatally acquired anomalies are disruptions or deformations. The aetiological classification can be applied to other congenital birth defects and improves counselling of families. Recurrence risks vary considerably between the classes.

Visual acuity in children with coloboma: clinical features and a new phenotypic classification system.

OBJECTIVE: The aims of this study were to describe the clinical features and biometric findings in the eyes of children with coloboma and to develop a classification of coloboma that correlates with visual function. DESIGN: Retrospective observational case series. PARTICIPANTS: One hundred thirteen children and young adults (48 female, 65 male) aged 0 to 20 years with 196 eyes having coloboma. METHODS: Children with coloboma were recruited from schools for the blind, integrated education programs, schools for the mentally handicapped, community-based rehabilitation services, and hospital clinics in Andhra Pradesh, India, between January 1998 and January 1999. Visual function was assessed, including distance and near visual acuity (VA), and navigational vision. The corneal diameter and axial length of eyes were measured wherever possible. MAIN OUTCOME MEASURES: Anatomic site of coloboma, association with microcornea and/or microphthalmos, VA, presence of navigational vision and reading vision. RESULTS: Of 196 eyes with colobomatous malformations, 11 had microphthalmos with cyst, and 185 eyes had coloboma (associated with microcornea in 155 eyes and with a normal corneal diameter in 30). Microphthalmos was present in 72 of the 185 eyes with coloboma, of which 71 of 72 also had microcornea. The prognosis for vision depended on the phenotype of the better eye. Microphthalmos with cyst had the worst prognosis (VA < 3/60, 100%; reading and navigational vision, 0%). Microcornea with microphthalmos had a worse prognosis than microcornea without microphthalmos (VA < 3/60: 66.7% vs. 23.3%; unable to read N10: 66.7% vs. 34.1 %; no navigational vision: 30.6% vs. 6.73%). Simple coloboma (no microcornea or microphthalmos) had the best prognosis (VA < 3/60: 6.7%; able to read N10: 93.3%; navigational vision: 100%). A corneal diameter <6 mm had a poor visual prognosis, whereas a corneal diameter >10 mm had a good prognosis. CONCLUSIONS: A phenotypic classification of coloboma is proposed, which in this study showed a good correlation with visual acuity, reading, and navigational vision. Microphthalmos with cyst had the worst prognosis, coloboma with microcornea and microphthalmos a poor prognosis, coloboma with only microcornea had an intermediate prognosis, and simple coloboma had the best prognosis.

Diagnostic precision in microphthalmos and coloboma of heterogeneous origin.

Heterogeneity of microphthalmos and coloboma is considerable and the clinical morphology is insufficient for etiological classification. A nosological classification has been performed in 86 cases of microphthalmos and coloboma occurring in mentally retarded individuals. Although nearly all were sporadic cases, a precise diagnosis could be established in 45 per cent of the cases. In 13 per cent, the phenotypes could not be assigned to any similar malformation syndrome described in the literature, and in 42 per cent the precision of the classification was low although the malformations had been repeatedly described before. An unknown number of the last-mentioned cases may have been environmentally induced, but little is known of environmentally induced ocular malformations and how to diagnose them after the first year of life.

Congenital upper eyelid coloboma and cryptophthalmos.

PURPOSE: To discuss the relation between congenital upper eyelid coloboma and cryptophthalmos and to present a new grading for both conditions. METHODS: Observational case series study. Twenty-six children (age range, one day after birth to 15 years old) were included in the study: 19 with upper eyelid coloboma, 4 with classic cryptophthalmos, and 3 with both eyelid coloboma and cryptophthalmos. RESULTS: Of the 19 cases of upper eyelid coloboma, 5 occurred in isolation, 11 were associated with facial deformities, and 3 were part of a first arch syndrome (according to the Mustardé classification). All cases of classic cryptophthalmos were sporadic and nonsyndromic. All patients with coloboma with facial deformities, cryptophthalmos, and both eyelid coloboma and cryptophthalmos had similar associated facial abnormalities. CONCLUSION: Upper eyelid colobomas with facial deformities and cryptophthalmos can be considered as one anomaly. A new grading for this anomaly has been suggested. Grade 1: Coloboma without cryptophthalmos. Grade 2: Coloboma with abortive cryptophthalmos. Grade 3: Coloboma with complete cryptophthalmos. Grade 4: Classic cryptophthalmos (absence of all eyelid structures and the eye is completely covered with skin). Grade 5: Severe cryptophthalmos (with severe deformity of the nose and ectropion of the upper lip).

Optic disc in fundus coloboma.

PURPOSE: To categorize and describe the type of optic disc involvement and blood vessel patterns seen in patients with fundus coloboma. METHODS: This is a prospective study involving 67 eyes of 40 patients with choroidal coloboma. The evaluation included documentation of fundus details using fundus drawings or photographs, or both. RESULTS: Six types of disc involvement were identified: (1) normal disc outside fundus coloboma (27.8%); (2) disc outside the fundus coloboma and abnormal (10.4%); (3) disc outside the fundus coloboma and independently colobomatous (8.9%); (4) disc within the fundus coloboma and normal (5.0%); (5) disc within the fundus coloboma and colobomatous (44.3%); and (6) disc shape not identified but blood vessels seen emanating from the superior border of the large fundus coloboma (2.9%). Visual acuity was better in types I, II, and III compared with IV, V, and VI. Microphthalmos was more common with the more severe anomalies. High myopia was more common in the less severe anomalies. CONCLUSION: Optic disc involvement in fundus coloboma is widely variable. Of fundus colobomas, 67.2% are associated with either a frankly colobomatous or an altered disc. Of the discs located outside fundus colobomas, 41% are also abnormal. Visual acuity was better in types I, II, and III.

Congenital anomalies of the retina.

Review of 50 histopathologic cases and a number of clinical cases of congenital retinal anomalies has permitted classification under the following headings: 1) Coloboma-orbital cyst--"anophthalmos" group due to aberrant closure of the embryonic fissure; 2) Retinal fold-central stalk-detachment group comprising a series that varies from simple retinal folds to total retinal detachment and anomalous stalk formation. Cases of the 13-15 trisomy syndrome constitute a special subgroup in this rubric; 3) Retrolental fibroplasia, due to hyperoxia of premature infants, is manifest by "dragged" disks and gliovascular proliferation with occasional detachment; 4) Persistent hyaloid system is occasionally associated with mild anomalies of the retina; 5) Massive gliosis of the retina is usually a hamartomatous manifestation; 6) Congenital absence of ganglion cells occurs with cerebral maldevelopment and 7) Congenital absence of the photoreceptors is the congenital form of retinitis pigmentosa.