PURPOSE: Choristomas represent congenital overgrowth of normal tissues in an abnormal location. The simultaneous presence of epibulbar choristoma and microphthalmos has rarely been reported. The authors report a case of extensive epibulbar choristoma associated with microphthalmos. CASE SUMMARY: A 9-day-old boy with the left eyeball absent from birth was referred to our clinic. A large cornea-like structure covered by keratinized membrane was observed inside the eyelid aperture, therefore buphthalmos or corneal staphyloma with microphthalmos was presumed. At the age of 2 months, a large mass of central conjunctival sac protruded through the left eyelid aperture. Manual reduction could not return the tissue to its original site and the mass immediately protruded again. At the age of 9 months, orbital magnetic resonance imaging showed the small presumed ocular tissue behind the large mass of fat signal in the central anterior orbit, therefore, extensive epibulbar choristoma associated with microphthalmos was diagnosed. At 12 months of age, partial excision of the protruding portion of the mass was performed. Based on pathologic examination, the mass was determined to be a choristoma and cosmetically acceptable appearance with prosthesis was maintained for 10 months after the surgery. CONCLUSIONS: Because there is no vision in extensive choristoma associated with microphthalmos, the treatment goal is cosmetic improvement. Conjunctivoplasty following partial mass excision for prosthesis wearing is a good treatment option.
Choristoma* ; Eyelids ; Humans ; Hydrophthalmos ; Lacrimal Apparatus ; Magnetic Resonance Imaging ; Male ; Membranes ; Microphthalmos* ; Orbit ; Parturition ; Prostheses and Implants

Neurofibromatosis (von Recklinghausen's disease) involves the eye in a great variety of clinical appearances. Secondary glaucoma with congenital ectropion uveae and mild buphthalmos in one eye and non-pigmented nodules in the iris of both eyes were observed in a 9-year-old girl with generalized neurofibromatosis. The patient also exhibited pigmented patches (cafe-au-lait spots) and multiple nodular masses of the skin. Two of the masses were excised and vitrified as plexiform neurofibroma, microscopically. This paper reports clinical, biomicroscopic, ophthalmoscopic, gonioscopic and histological findings in the patient.
Child ; Ectropion* ; Female ; Glaucoma* ; Humans ; Hydrophthalmos* ; Iris* ; Neurofibroma, Plexiform ; Neurofibromatoses* ; Skin ; Uvea*

Lowe et al. have described a disease characterized by organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation, this disease is now called as Lowe's syndrome or oculo-cerebro-renal syndrome which manifests growth plates, metabolic acidosis, and characteristic eye changes, including bilateral cataract, glaucoma and nystagmus. It is a congenital hereditary affectation. Most of the patients with this syndrome are male sex. We report a new case of Lowe's syndrome in a 5-year old girl.
Acidosis ; Ammonia ; Cataract ; Child ; Female ; Glaucoma ; Growth Plate ; Humans ; Hydrophthalmos ; Intellectual Disability ; Male

Sturge-Weber syndrome is a congenital disorder characterized by facial nevus flammeus along the distribution of the trigeminal nerve, ipsilatal leptomeningioma, buphthalmos, and choroidal angioma. The Authors experienced a case of Sturge-Weber syndrome in 9 year old female patient and glaucoma was controlled by trabecuectomy without any complications.
Child ; Choroid ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Female ; Glaucoma ; Hemangioma ; Humans ; Hydrophthalmos ; Port-Wine Stain ; Sturge-Weber Syndrome* ; Trigeminal Nerve

Sturge-Weber syndrome is a neurocutaneous syndrome characterized by portwine nevus of the face with angiomatosis of the ipsilateral cerebral leptomeninges and extensive calcification in the underlying cerebral cortex. Associated features include mental retardation, generalized or focal seizures, hemiparesis, choroidal angioma, & buphthalmos or glaucoma. We experienced a case of incomplete form of Sturge-Weber syndrome in a 12 year-old boy, who had generalized seizure, a homonymous hemianopsia, intracranial calficication and leptomeningeal angiomatosis without facial nevus or mental retardation. So we presented a case with a brief review of related literatures.
Angiomatosis ; Cerebral Cortex ; Child ; Choroid ; Glaucoma ; Hemangioma ; Hemianopsia ; Humans ; Hydrophthalmos ; Intellectual Disability ; Male ; Neurocutaneous Syndromes ; Nevus ; Paresis ; Seizures ; Sturge-Weber Syndrome*