Hereditary Multiple Exostoses with Rare Ocular Finding: A Case Report.

Purpose: To study rare ocular findings in a rare case of hereditary multiple exostoses (HME) and to study HME in one family. Methods: HME is an autosomal dominant genetic disease characterized by the presence of multiple exostoses (osteochondromas). It is caused by mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). We report HME in a family over three generations. The index case was a 14-year-old female who presented with an ocular mass and multiple hard nodules in the upper and lower limbs. Family history revealed similar multiple nodules in the younger brother, father, and grandfather. Hence, the paternal family history for HME is positive. All the family members were examined. Family members who were diagnosed with HME had a series of radiology tests completed. Furthermore, the family members with HME were also seen by an orthopedic surgeon. Results: Family history and physical examination revealed multiple exostoses in the younger brother, father, and grandfather. They were all diagnosed with HME. The index case also had an ocular surface mass with scleral ectasia in the right eye. Conclusion: HME is a rare, genetic disorder. Cases of HME with ocular findings are rare. This patient has a paternal family history of HME and presents with an ocular surface mass.

Presenile cataract and its risk factors: A case control study.

PURPOSE: Early onset opacification of the lens (cataract) has been observed to be on the rise globally. This study was conducted to determine the various types of presenile cataract and to determine the probable risk factors associated with the occurrence of presenile cataract. MATERIALS AND METHODS: Patients in the age group of 18-40 years attending the Out-Patient Clinic of the Ophthalmology Department who were found to have presenile cataract were recruited as cases. An equal number of consecutive patients of the same age group were included in the control group. Those who gave consent to participate in the study were interviewed through a preformed questionnaire and underwent a complete ocular examination and set of blood investigations. The type of cataract was noted, data obtained were compiled, and examination and investigations done were documented and analyzed using frequency distribution and Chi-squared test. RESULTS: In total, 90 cases and 90 controls that fulfilled the inclusion criteria were recruited. Most common type of cataract was found to be posterior subcapsular cataract. Presenile cataract was observed to be significantly associated with tobacco intake (P = 0.035), hypercholesterolemia (P = 0.002), fuel exposure (P = 0.004), and lower socioeconomic status (P = <0.001). CONCLUSIONS: Tobacco chewing, hypercholesterolemia, and excessive fuel exposure are risk factors for early development of cataract.