PURPOSE: Ichthyosis is known to have ocular associations such as @entity14985 , @entity1184 , corneal vascularization, ectropion, lagophthalmos, etc. However, no reports of its association with @entity726 are there, to the best of our knowledge. We report a unique case of @entity1538 ( @entity1538 ) with @entity17433 . METHOD: A 16-year-old male @entity1 presented with a gradual, painless progressive @entity227 in both eyes over a period of 3 years. Systemic examination revealed stunted body growth with knock-knees, @entity32889 . Generalized dry scaly lesions with erythema, along with @entity5656 of the palms and the soles, suggestive of @entity17433 were present. On ocular examination, the intraocular pressure was 36 mm Hg; optic nerve head examination revealed a horizontally oval disc with near total cupping in the right eye and total cupping in the left eye, with extensive @entity2479 thinning and pallor. Gonioscopy showed wide open angles with prominent iris processes. Screening of @entity1538 -associated genes ( @entity29714 , @entity19563 , @entity48101 , and @entity4188 ) and @entity5657 -associated gene ( @entity23429 ) was performed by the direct PCR-sequencing method. RESULTS: A diagnosis of @entity1538 with advanced glaucomatous @entity1781 with @entity17433 and @entity11089 was made. The @entity1 underwent right followed by left eye trabeculectomy with 0.2 mg/dL @entity1139 (for 1 min). Postoperatively, the intraocular pressure was 8 mm Hg at 1 week, and 12 to 14 mm Hg at the 6-week, the 3-month, and the 6-month follow-up, and the visual acuity was maintained in the right eye. No mutations in @entity29714 , @entity19563 , @entity48101 , @entity4188 , and @entity23429 were observed in the @entity1 and his family. CONCLUSIONS: An association of @entity726 with @entity5657 should be kept in mind. Therefore, a detailed baseline ocular examination in @entity1 with @entity5657 is required, as early detection of @entity726 could prevent irreversible @entity1939 .

A Unique Case of @entity1538 With XXXX With Rickets: A Case Report and Review of the Literature.

@entity1 :: ('9606', 'Species') :: ['patient', 'child', 'children'] @entity227 :: ('MESH:D014786', 'Disease') :: ['diminution of vision'] @entity1538 :: ('MESH:D005902', 'Disease') :: ['JOAG', 'juvenile open-angle glaucoma'] @entity19563 :: ('4909', 'Gene') :: ['NTF4'] @entity11089 :: ('MESH:D012279', 'Disease') :: ['rickets'] @entity2479 :: ('MESH:D012173', 'Disease') :: ['neuroretinal rim'] @entity1184 :: ('MESH:D006984', 'Disease') :: ['hypertrophic conjunctivitis'] @entity5656 :: ('MESH:D017488', 'Disease') :: ['hyperkeratosis'] @entity4188 :: ('1545', 'Gene') :: ['CYP1B1'] @entity23429 :: ('7051', 'Gene') :: ['TGM1'] @entity14985 :: ('MESH:D001762', 'Disease') :: ['blepharitis'] @entity726 :: ('MESH:D005901', 'Disease') :: ['glaucoma'] @entity17433 :: ('MESH:D017490', 'Disease') :: ['lamellar ichthyosis'] @entity32889 :: ('MESH:C537877', 'Disease') :: ['suggestive of late-onset rickets'] @entity48101 :: ('134430', 'Gene') :: ['WDR36'] @entity1781 :: ('MESH:D009901', 'Disease') :: ['optic neuropathy'] @entity1139 :: ('CHEBI:27504', 'Chemical') :: ['MMC'] @entity1939 :: ('MESH:D001766', 'Disease') :: ['blindness'] @entity5657 :: ('MESH:D007057', 'Disease') :: ['ichthyosis'] @entity29714 :: ('4653', 'Gene') :: ['MYOC']
@entity17433 :: (MESH:D017490,Disease) :: ['Lamellar Ichthyosis']
