Brittle cornea syndrome: A tale of three brothers

Brittle cornea syndrome (BCS) is a genetic connective tissue disorder with discernible ocular features such as blue scleral and thin cornea that predominantly presents in younger children. We herein describe cases of three siblings with BCS, two of whom presented to us with open globe injuries following trivial trauma. Clinical examination of the other eye in both showed diffusely thin corneas and blue sclera. A systemic evaluation revealed sensorineural hearing loss and hyperextensible joints. The third sibling was screened and found to have features concurrent with BCS. This report highlights the challenges faced in the management of ocular injuries and consecutive complications in these patient

Congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype.

We aimed to describe congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype. Two sisters (ages four and six) with bilateral high astigmatism were evaluated by slit‑lamp microscopy. Corneal topography and pachymetry maps were also obtained. Slit‑lamp examination revealed that both corneas were globular in shape with peripheral corneal thinning. Pachymetry maps showed diffuse corneal thinning. Two siblings had in common the features of keratoglobus, blue sclera, atypical face, hearing loss, and hypermobile joints. We tentatively diagnosed the sisters as having an overlapping Marshall‑Stickler phenotype based on clinical and radiological findings. Marshall‑Stickler syndrome may exist in the differential diagnosis of keratoglobus with blue sclera.

Keratoglobus: An experience at a tertiary eye care center in India.

Context: This study was carried out as a part of an internal audit and is the largest series of patients having keratoglobus, published in the literature. Poor visual acuity of the patients indicates the blinding nature of the disease. Aims: We report our experience with patients having keratoglobus at a tertiary eye care center in India. Settings and Design: Retrospective study. Materials and Methods: We analyzed adults and pediatric patients (<16 years) with keratoglobus, seen during 2008–2012. The age, gender, consanguinity, presenting ocular signs, ocular and systemic associations, visual acuity, corneal topography, and surgeries were documented. Results: Forty‑eight patients (mean age 22 ± 15 years, 31 males) having keratoglobus were analyzed. 21 patients (42 eyes) were <16 years. Twelve eyes (16 events) had positive history of trauma. The presenting clinical signs were corneal scars/scars of tear repair (15 eyes), hydrops, healed and acute (14 eyes) and corneal or globe rupture (9 eyes). Best‑corrected visual acuity was >20/40 in 6/42 (14.3%) pediatric eyes and 15/53 (28.30%) adults. Visual acuity ranging from counting of fingers to no light perception was noted in 20/53 (37.74%) adults and 21/42 (50%) pediatric patients; 13/20 (65%) with blue sclera and 8/22 eyes (36.37%) without blue sclera. Vernal keratoconjunctivitis was present in one pediatric patient. Choroidal osteoma, retinitis pigmentosa, and retinal detachment were present in adults. Surgeries performed were corneal tear repair (5 eyes), tissue adhesive application (2 eyes), descematopexy (4 eyes) and penetrating keratoplasty (PK ‑ 8 eyes: Three had post‑PK glaucoma, graft failure‑one eye, 4 patients wore scleral lens ‑ prosthetic replacement of the ocular surface ecosystem). Conclusions: About 50% of pediatric eyes (65% having blue sclera) had no functional vision. Trivial trauma was responsible for corneal rupture indicating need for protective glasses. About 50% patients had post‑PK glaucoma though grafts were clear.

Blue scleras with otosclerosis

A brief history of what is now known as the Van der Hoeves syndrome is described. The case reports of two members of a family with blue scleras and deafness, and who in the past suffered from some form of dislocation or fractures, are presented. The first case came because of impairment of hearing. The second case developed unilateral deafness, which was discovered only when subjected to the various functional tests for hearing. Only after some questioning did he admit that his hearing in the right ear was not what it used to be. In both cases the deafness was of the conductive type and fulfilled the criteria of clinical otosclerosis as described in textbooks. The disease was from the paternal side, but that was as far as the hereditary history could be traceAs mentioned earlier, the incidence of clinical otosclerosis is infrequent among the Filipinos; but the actual rate of incidence has not been studied. In studies abroad, the Negroes are also less affected than the whites. The reason for this difference is not known. D.W. Brickley Jr. believes that a possible clue to the causation of otosclerosis may be found through studies of this interesting and unique syndrome. (Summary and Comment)

The Blue Sclera in Osteogenesis Imperfecta

Osteogenesis imperfecta is relatively rare hereditary disease. It is characterized by frequent multiple bone fractures, spine scoliosis due to fragility of bone and is often associated with blue sclera, deafness and dentinogenesis imperfecta. Three-year-old male patient showed left tibia and fibula fractures and spine scoliosis with mild cortical bone thinning of tibia and fibula in radiologic study and blue sclera with family history of autosomal dominant inheritance pattern on ocular examination. He suffered 4 times lower leg fractures during the last 19 months. But, other features associated with osteogenesis imperfecta such as deafness or dentinogenesis imperfecta were not observed. The authors diagnosed osteogenesis imperfecta clinically and report this case with review of available literature.