[Congenital abnormalities of the optic disc]. / Anomalies congénitales de la papille.

Congenital abnormalities of the optic disc are not uncommon in clinical practice and should be recognized. Size abnormalities of the optic disc include optic disc aplasia, hypoplasia, megalopapilla, and optic disc cupping in prematurity. Among congenital excavations of the optic disc head, morning glory disc anomaly and optic disc pit can be complicated by serous retinal detachment; the papillorenal disc is an association of bilateral optic disc cupping and renal hypoplasia which should be ruled out; optic disc coloboma is caused by an abnormal closure of the embryonic fissure and can be complicated by choroidal neovascularization and retinal detachment. Other abnormalities that will be discussed are congenital tilted disc syndrome, duplicity of the optic disc head, congenital pigmentation of the optic disc head and myelinated retinal nerve fibers. All of these abnormalities can be associated with syndromes and neurological diseases, as well as other potentially blinding ophthalmological defects which can be secondarily complicated by amblyopia, strabismus and nystagmus. Thus, they should be recognized in order to plan for appropriate follow-up.

Occult Optic Disc Pit Maculopathy in a Glaucomatous Disc.

Optic pits are congenital defects of the optic disc. Diagnosis of optic pit maculopathy is quite challenging in the absence of a clinically visible or optical coherence tomography (OCT) proven pit. One such scenario is when there is advanced glaucomatous cupping. We present a case in which OCT helped detect optic disc pit maculopathy in a 60-year-old female.

Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome).

BACKGROUND: Kabuki syndrome is a multi-system disorder with peculiar facial features, and ophthalmic abnormalities are frequently involved. This case report of a child with Kabuki syndrome describes two new previously unreported ophthalmic conditions. CASE PRESENTATION: A 3-year-old Taiwanese boy with Kabuki syndrome had a short stature, spinal dysraphism, intellectual disability and typical facial features. Ophthalmic findings which have been previously reported in the literature and in this patient, included ptosis, esotropia, coloboma of the iris, retina, choroid and optic disc, and microcornea. The newly identified ophthalmic features in this patient included colobomatous microphthalmos and a dysplastic and elevated disc without central cupping. The genetic analysis identified an MLL2 gene mutation. CONCLUSION: The presentations of a dysplastic disc and colobomatous microphthalmia are rarely reported in patients with Kabuki syndrome, but these ophthalmic abnormalities may affect vision. Detailed ophthalmic evaluations in children with Kabuki syndrome are advised.

Congenital optic nerve pit in trisomy 18.

The authors report the first case of trisomy 18 associated with a clinically detectable optic nerve pit. A female infant with a birth weight of 2,150 g was born by cesarean section to a healthy 40-year-old woman at 38 weeks of gestation. Trisomy 18 had been diagnosed by prenatal genetic testing. Ophthalmologic examination was remarkable for bilateral narrowed palpebral fissures with punctal agenesis, corectopic pupils without reaction to light, bilateral inferior peripapillary retinochoroidal hypopigmentation, and significant optic nerve cupping in the left eye with associated temporal optic nerve pit. It has generally been accepted that optic nerve pits are a congenital anomaly. However, the pathophysiological background of optic nerve pits remains unclear and controversial. This is the first clinical and photographic documentation of an optic nerve pit in a neonate and in Edwards syndrome.

Congenital optic nerve pit in trisomy 18.

The authors report the first case of trisomy 18 associated with a clinically detectable optic nerve pit. A female infant with a birth weight of 2,150 g was born by cesarean section to a healthy 40-year-old woman at 38 weeks of gestation. Trisomy 18 had been diagnosed by prenatal genetic testing. Ophthalmologic examination was remarkable for bilateral narrowed palpebral fissures with punctal agenesis, corectopic pupils without reaction to light, bilateral inferior peripapillary retinochoroidal hypopigmentation, and significant optic nerve cupping in the left eye with associated temporal optic nerve pit. It has generally been accepted that optic nerve pits are a congenital anomaly. However, the pathophysiological background of optic nerve pits remains unclear and controversial. This is the first clinical and photographic documentation of an optic nerve pit in a neonate and in Edwards syndrome.

[Juvenile glaucoma and optic disc pit with macular detachment in Klinefelter's syndrome]. / Glaucoma juvenil y foseta papilar con desprendimiento macular asociado a síndrome de Klinefelter.

CASE REPORT: A 34- year- old man affected by Klinefelter syndrome, with loss of vision in his left eye, ocular hypertension with increased cupping in both eyes, and optic disc pit with serous macular detachment in the left eye. Optical coherence tomography showed a macular detachment with a double-layer detachment, consisting of both an inner layer separation and an outer layer detachment. The outer layer detachment did not seem to communicate with the optic disc. DISCUSSION: Klinefelter syndrome has been associated with diffuse choroidal atrophy and colobomas of the iris and choroid. Our patient showed bilateral juvenile glaucoma and unilateral congenital optic disc pit. This association has not been previously reported in the bibliography.

[Selected aspects of pediatric ophthalmology for non-pediatric ophthalmologists. Part 2: The odd looking optic nerve head in infants]. / Ausgewählte Aspekte der Kinderophthalmologie für Nicht-Kinderophthalmologen. Teil 2: Die "merkwürdig" aussehende Papille beim Kleinkind.

This article describes the clinical presentation of the most common congenital optic disc findings: optic nerve hypoplasia, optic disc cupping and pediatric optic atrophy. Particular emphasis is placed on the often difficult question: is it a physiological variant or is it pathological? Do I need further investigations? Pragmatic clinical hints are given to enable ophthalmologists to recognize normal variants with greater certainty but also not to overlook congenital optic nerve pathologies. Congenital anomalies of the optic nerve (head) are more common than half a century ago. They can affect the visual development and thus the general infantile development to a large extent if presenting bilaterally. They can occur isolated, with other ocular pathologies and/or accompanied by systemic diseases or syndromes, such as septo-optic dysplasia, albinism, prematurity, small for gestational age birth, as well as due to toxic exposure during pregnancy (e.g. drugs, alcohol and maternal diabetes). In addition to clinical illustrations to distinguish between physiological variants and pathologies of the optic nerve head, the different diagnostic and therapeutic options depending on the age of presentation of the infant are outlined. The reader will obtain some guidelines for distinguishing congenital and acquired optic nerve pathologies. The focal point of the present paper is with infants aged 0-2 years where many diagnostic imaging and psychophysical techniques cannot be applied. Therefore, this age group is the most difficult to correctly discriminate between physiological and pathological findings and to decide whether further diagnostic and/or treatment steps are necessary.

The optic nerve head in congenital fibrosis of the extraocular muscles.

OBJECTIVE: Optic nerve head abnormalities have been reported in some patients with congenital fibrosis of the extraocular muscles (CFEOM). This study prospectively assesses optic nerve head appearance in a consecutive CFEOM cohort. METHODS: All patients with CFEOM referred between 2006 and 2010 and who were mature enough to cooperate with fundus photography were included. Fundus photographs were reviewed with attention to optic nerve head features (eg, cupping >0.6, asymmetric cupping >0.3, optic nerve hypoplasia). Interested participants had CFEOM candidate gene analysis (KIF21A, TUBB3, PHOX2A) for genetic counseling purposes. RESULTS: Ten CFEOM patients (five CFEOM1, five CFEOM3, age range 5-23 years) from eight families (all consanguineous but one) participated. All 10 patients had notable disc excavation (5) or optic nerve hypoplasia (5). CFEOM candidate gene analysis was performed in all patients and revealed a heterozygous p.R954W KIF21A mutation only in the patient who was not from a consanguineous family. CONCLUSIONS: Our observations suggest the optic nerve head can be affected by the orbital dysinnervation that occurs in CFEOM. Because careful clinical optic nerve head assessment is difficult in young patients with CFEOM and associated large angle incomitant strabismus, optic nerve head abnormalities may be under-diagnosed. The absence of mutations in known CFEOM genes in our cohort of consanguineous families suggests further genetic heterogeneity of this group of conditions.

The syndrome of optic nerve hypoplasia.

The congenital malformation known as optic nerve hypoplasia (ONH) has been recognized in the past 30 years as an epidemic cause of congenital blindness. It was believed to occur either as an isolated anomaly or as a component of the syndrome of septo-optic dysplasia, which has evolved to include midline brain malformations and hypopituitarism. Evidence now suggests that ONH infrequently occurs in isolation. Most afflicted children will have hypothalamic dysfunction and/or neurodevelopmental impairment, regardless of MRI findings or severity of ONH. Adverse outcomes can often be ameliorated with early intervention. Thus, the syndrome of ONH should be suspected in all infants with signs of hypothalamic dysfunction or vision impairment.

Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping.

PURPOSE: To describe a multigenerational family with autosomal dominant inheritance of cavitary optic nerve head (ONH) anomalies and abnormal ONH vasculature. DESIGN: Description of a single family with inherited eye disease. METHODS: A four-generation pedigree was investigated. Examination included visual acuity, slit-lamp biomicroscopy, intraocular pressure (IOP) measurement, and ophthalmoscopy. Visual fields and fundus photography were obtained when possible. RESULTS: Seventeen clinically affected individuals and two obligate carriers were identified. Most (64.7%) affected persons had bilateral involvement. Visual acuity in affected eyes ranged from 20/20 to no light perception. Although the appearance of affected nerves varied greatly, most lacked a well-formed central retinal artery and instead had multiple radial cilioretinal arteries. Prominent cupping was seen in most affected nerves. Four individuals for whom information was available were treated for glaucoma, but none had documented elevated IOP. Four eyes of two patients demonstrated progressive ONH cupping at normal IOPs. Nine (56.3%) of the 16 individuals for whom we had data had evidence of serous macular detachments; five of these had bilateral macular disease. CONCLUSIONS: A large family with autosomal dominant inheritance of cavitary ONH anomalies and abnormal vasculature is presented. Clinical phenotypes varied markedly. Progressive ONH cupping was documented in four eyes of two patients. Genetic linkage analysis of this family has identified the chromosomal location of a gene responsible for ONH development. This may provide insight into the pathogenesis of glaucomatous ONH damage.

Abnormal cupping of the optic disc: clinical screening before performing a neuroimaging examination.

Imaging studies in typical glaucomatous cupping are usually needless. This article reviews the various clinical presentations for considering imaging in patients presenting with cupped disc.

Superior segmental optic hypoplasia found in Tajimi Eye Health Care Project participants.

PURPOSE: To investigate the prevalence and characteristics of superior segmental optic hypoplasia in Japanese. METHODS: We studied 14 779 subjects, aged 40 years or older, who underwent IMAGEnet fundus photography as part of a large-scale eye disease screening project conducted in Tajimi, Japan. A single researcher reviewed all of the photographs for the presence of ocular abnormality in the optic nerve head and retina, paying special attention to the presence of superior segmental optic hypoplasia. RESULTS: Fundus photographs of 14 431 cases (28,396 eyes) were successfully reviewed. We found superior segmental optic hypoplasia in 37 cases (54 eyes; 0.3% of the cases and 0.2% of the eyes). Of the 37 cases, 23 (62%) showed the corresponding visual field defect in at least one eye. CONCLUSION: The prevalence of superior segmental optic hypoplasia is about 0.3% in the Japanese population.

Congenital disorders of the optic nerve: excavations and hypoplasia.

The principal congenital abnormalities of the optic disc that can significantly impair visual function are excavation of the optic disc and optic nerve hypoplasia. The excavated optic disc abnormalities comprise optic disc coloboma, morning glory syndrome, and peripapillary staphyloma. Optic nerve hypoplasia manifests as a small optic nerve, which may or may not be accompanied by a peripapillary ring (the double ring sign). In addition, the optic disc cupping, which occurs as a sequel to some cases of periventricular leucomalacia, can arguably be classified as a type of optic nerve hypoplasia. All of these conditions can be unilateral or bilateral and can impair visual function mildly or severely. It is essential that children with poor vision due to any of these conditions are managed by treating refractive errors, giving occlusion therapy in selected cases, and optimising the conditions at home and at school in an attempt to ensure that impaired vision does not impede development or education.

[Idiovariation of papillogenesis]. / Idiovariationen der Papillogenese.

Among the great number of idiovariations of papillogenesis, some malformations near the optic disk are of special interest with regard to their formal origin, morphology and differential diagnosis. This matter is discussed on the basis of the author's own observations, which relate to the coloboma spurium of the optic disk, to the ectatic colobomas situated on the disk, the circumscribed pitting of the disk and to Handmann's optic nerve anomaly. With regard to the central retinal changes which occur in coloboma spurium of the disk and in circumscribed pitting of the disk, these are not to be explained by mechanical factors, but as correlation alterations. They are also closely connected with the macular changes in Handmann's optic nerve anomaly. Coloboma spurium of the disk as well as circumscribed pitting of the disk should be distinguished. With regard to their formal origin and morphology, the former malformation should be designated major pitting and the latter minor pitting of the disk. A guide is given to the differential diagnosis of major and minor pitting of the disk, as well as of glaucomatous cupping.

Suprasellar tumors and incidental optic disc anomalies. Diagnostic problems in two patients with hemianopic temporal scotomas.

Anomalous optic discs may be associated with relative temporal visual field defects that need to be distinguished from bitemporal field defects of chiasmal compression. Two patients with both anomalous discs and suprasellar tumors were hospitalized with temporal hemianopic scotomatous visual field defects. A 19-year-old woman with a chromophobe adenoma had a monocular temporal hemianopic scotoma in the eye exhibiting an inferior-nasal disc crescent. A 22-year-old man with a hypothalamic-chiasmal germinoma causing bitemporal hemianopic scotomas had minor disc colobomas bilaterally. Careful study of the optic discs and posterior fundus, as well as evaluation of the characteristics of the temporal field defects, should distinguish chiasmal compression in the occasional case where suprasellar tumor and anomalous optic discs coincide.