| Zonular cataract and nystagmus | |
|---|---|
| Other names | Early-onset non-syndromic cataract |
| Specialty | Medical genetics  |
Zonular cataract and nystagmus, also referred as nystagmus with congenital zonular cataract, is a rare [1] congenital disease associated with Nystagmus and zonular cataract of the eye.
It has been suggested that the disease follows an X-linked pattern of inheritance [2] though studies done on this particular disease are few. [3]
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Aniridia is the absence of the iris, a muscular structure that opens and closes the pupil to allow light into the eye. It is also responsible for eye color. Without it, the central eye appears all black. It can be congenital, in which both eyes are usually involved, or caused by a penetrant injury. Isolated aniridia is a congenital disorder which is not limited to a defect in iris development, but is a panocular condition with macular and optic nerve hypoplasia, cataract, and corneal changes. Vision may be severely compromised and the disorder is frequently associated with a number of ocular complications: nystagmus, amblyopia, buphthalmos, and cataract. Aniridia in some individuals occurs as part of a syndrome, such as WAGR syndrome, or Gillespie syndrome.
Nyctalopia, also called night-blindness, is a condition making it difficult or impossible to see in relatively low light. It is a symptom of several eye diseases. Night blindness may exist from birth, or be caused by injury or malnutrition. It can be described as insufficient adaptation to darkness.
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males and in females who are homozygous for the gene mutation, see zygosity. Females with one copy of the mutated gene are carriers.
A coloboma is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born. Ocular coloboma is relatively uncommon, affecting less than one in every 10,000 births.
Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum, is a rare autosomal recessive congenital disorder characterized by albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, severe psychomotor retardation, seizures, immunodeficiency and recurrent severe infections. To date, about 50 cases have been reported.
Gap junction alpha-3 protein is a protein that in humans is encoded by the GJA3 gene.
Beta-crystallin A3 is a protein that in humans is encoded by the CRYBA1 gene.
Nystagmus is a condition of involuntary eye movement, sometimes informally called "dancing eyes". People can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in reduced or limited vision.
Rud syndrome is a poorly characterized disorder, probably of X-linked recessive inheritance, named after Einar Rud who described 2 patients with the case in 1927 and 1929. It was argued that all reported cases of Rud syndrome are genetically heterogeneous and significantly differ from the original case reports of Rud and that the designation Rud syndrome should be eliminated and that the patients with such diagnosis should be reassigned to other syndromes, such as Refsum disease and Sjögren-Larsson syndrome. Some consider Rud syndrome and Sjögren-Larsson syndrome the same entity and that Rud syndrome does not exist.
Dennie–Marfan syndrome is a syndrome in which there is association of spastic paraplegia of the lower limbs and mental retardation in children with congenital syphilis. Both sexes are affected, and the onset of the disease can be acute or insidious, with slow progression from weakness to quadriplegia. Epilepsy, cataract, and nystagmus may also be found.
Persistent Fetal Vasculature(PFV), known also as Persistent Fetal Vasculature Syndrome (PFSV), and until 1997 known primarily as Persistent Hyperplastic Primary Vitreous (PHPV), is a rare congenital anomaly which occurs when blood vessels within the developing eye, known as the embryonic hyaloid vasculature network, fail to regress as they normally would in-utero after the eye is fully developed. Defects which arise from this lack of vascular regression are diverse; as a result, the presentation, symptoms, and prognosis of affected patients vary widely, ranging from clinical insignificance to irreversible blindness. The underlying structural causes of PFV are considered to be relatively common, and the vast majority of cases do not warrant additional intervention. When symptoms do manifest, however, they are often significant, causing detrimental and irreversible visual impairment. Persistent Fetal Vasculature heightens the lifelong risk of glaucoma, cataracts, intraocular hemorrhages, and retinal detachments, accounting for the visual loss of nearly 5% of the blind community in the developed world. In diagnosed cases of PFV, approximately 90% of patients with a unilateral disease have associated poor vision in the affected eye.
Nance–Horan syndrome is a rare X-linked dominant syndrome characterized by congenital cataracts leading to profound vision loss, characteristic dysmorphic features, and dental anomalies. Microcornea, microphthalmia, and mild or moderate intellectual disability may accompany these features. Heterozygous females often manifest similarly but with less severe features than affected males.
Childhood cataract is cataract that occurs at birth or in childhood. It may be congenital or acquired.
Sengers syndrome is a rare autosomal recessive condition characterised by congenital cataract, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. In some cases, they are inherited, in which case they would be called congenital. In addition, heart disease and muscle disease are prevalent, and life expectancy is short for many patients.
Mietens syndrome is a autosomal recessive disorder first described by Mietens and Weber. The condition is named after a German physician named Carl Mietens.
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is a very rare genetic disorder which is characterized by congenital muscular dystrophy, infantile-onset cataract, and hypogonadism. Males usually develop Klinefelter syndrome while females develop agenesis of the ovaries. It has been described in eight individuals of which seven came from Finnmark County, Norway. Inheritance pattern is thought to be autosomal recessive.
Absence deformity of leg-cataract syndrome is a very rare genetic limb malformation which is characterized by unilateral absence deformity, scoliosis, low stature, and optic nerve dysplasia-associated congenital cataract. It has been described in two distantly related kin of Amish descent.
Split hand split foot-nystagmus syndrome, also known as Karsch-Neugebauer syndrome is a rare genetic disorder which is characterized by the absence of the central rays of the hands and foot resulting in an apparent "split hand and split foot", alongside congenital nystagmus and other eye abnormalities such as cataracts. It is inherited in an autosomal dominant manner. Only 10 cases from 4 families worldwide have been described in medical literature.
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