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Purpose: To examine the ocular findings in mucopolysaccaridoses-1 (MPS-1) and the relationship between intraocular pressure (IOP) and central corneal thickness following bone marrow transplantation., Setting: clinical practice., Subjects: 23 subjects with MPS-1 following bone marrow transplantation were examined., Observation Procedures: age, sex, visual acuity, presence of strabismus, refractive error, fundus examination, intraocular pressure, and central corneal thickness were assessed for each individual., Main Outcome Measure: correlation of central corneal thickness with intraocular pressure. Only the right eye was used in correlations., Results: Forty-six eyes of 23 subjects were examined. All subjects had been treated with successful bone marrow transplantation with mean follow-up of 8.5 years. Ages ranged from 17 months to 19 years (SD 5.03). Of the subjects, 60.8% were female; 85.5% were hyperopic; 8.6% had best-corrected visual acuity of >/=6/12; 34.5% had best-corrected visual acuity of <6/12 and >6/36 with 56.9% <6/36; 30% had strabismus. IOP ranged from 13 to 41 mm Hg with four children on antiglaucoma therapy. Central corneal thickness ranged from 484 microm to 705 microm and was moderately correlated with measured IOP in the right eye (r = 0.56). Corneal opacification moderately correlated with central corneal thickness (r = 0.57). Seventy percent had a normal disk evaluation; 30% had abnormal disk cupping., Conclusion: This is the first large case series of MPS-1 subjects demonstrating a correlation between measured IOP and central corneal thickness. All subjects had corneal opacification moderately correlating with corneal pachymetry.

Terminal deletion of chromosome 4q is a genetic abnormality associated predominantly with cardiac abnormalities, abnormal facial features, and developmental delay. A specific clinical clue to this infrequently diagnosed disorder is hypoplasia of the terminal phalanx of the fifth finger with an abnormal nail, occasionally extending onto the volar surface. Ocular manifestations of the disorder are uncommon, but anterior segment dysgenesis and glaucoma have been described with proximal deletions of chromosome 4 with phenotypes resembling Rieger's anomaly. We present a case of 4q deletion syndrome, presenting with asymptomatic bilateral disk swelling.

An unusual congenital syndrome was first reported in 1966 by Kenny and Linarelli, who described two patients with dwarfism, cortical thickening of the long bones, transient hypocalcemia, and normal intelligence,(1) the radiological features in the condition being reported by Caffey.(2) The constellation of dwarfism, medullary stenosis, transient hypocalcemia, and ophthalmologic abnormalities has been classically recognized as Kenny-Caffey syndrome with additional manifestations ranging from hypoplastic nails, persistent neutropenia, abnormal T-cell function, and neonatal liver disease.(3) Ocular findings range from uncomplicated nanophthalmos with hypermetropia to extreme pseudopapilloedema, vascular tortuosity, and macular crowding. Other reported ophthalmic findings include bilateral band keratopathy,(4) bilateral optic atrophy,(5) and myelinated nerve fibers.(6) We report two cases of Kenny-Caffey syndrome with an ellipsoid macular fold orientated horizontally involving the fovea and document this unusual feature with optical coherence topography (OCT).

Purpose: To report the ocular complications in a series of patients with autoimmune polyendocrinopathy syndrome, type 1 (APS1)., Methods: A retrospective study of 17 patients with APS1 syndrome treated at the department of ophthalmology, Our Lady's Hospital for Sick Children in Crumlin, Dublin, Ireland. All patients had clinical manifestations of the disease in keeping with the diagnostic criteria of APS1. Each patient had a comprehensive ophthalmic history taken and examination, including ocular symptoms, best-corrected visual acuity, slit-lamp biomicroscopy, tear film evaluation, and dilated ophthalmoscopic examination., Results: Six of 17 patients (35%) had corneal changes. Two patients (12%) had severe keratoconjunctivitis requiring hospitalization and intensive topical steroids and lubricants. The inflammation resulted in visual acuity reduction in one patient secondary to central corneal scarring. Other ocular findings included reduced tear production, as tested with Schirmers tear strips (63%), lens opacities (18%), hypotrichosis (12%), hypertrichosis (5.9%), anisometropic amblyopia (5.9%), and myopia (5.9%)., Conclusions: The most common and clinically important ocular manifestation of APS1 was keratoconjunctivitis associated with dry eye. This can result in progressive corneal scarring and vision loss.

Purpose: Meningococcal septicemia is associated with coagulopathy and hemorrhagic tendency. We carried out this study to determine the incidence of retinal hemorrhages in meningococcal septicemia., Methods: This was a prospective study involving all children admitted to the Sheffield Children's Hospital, Sheffield, England, with a diagnosis of meningococcal septicemia. Confirmation of meningococcal infection was by blood culture or DNA analysis using polymerase chain reaction. The children underwent ocular examination including dilated fundus examination by direct and indirect ophthalmoscopy. Details of their coagulation status were also obtained., Results: Twelve children (mean age, 4.5 years) with a confirmed diagnosis of meningococcal septicemia were included. All children had coagulopathy. Retinal hemorrhages were found in 5 children (42%). The disease was fatal in 3 children. Group C meningococcus was responsible for the infection in all those with retinal hemorrhages and those with fatal outcome., Conclusions: Retinal hemorrhage is a common feature in meningococcal septicemia. Ophthalmic evaluation should be part of the assessment of children with meningococcal septicemia. Future studies on meningococcal disease should include retinal hemorrhage as another parameter in the assessment. This should help us to understand the role of retinal hemorrhage in the prognosis of this serious disease.