Osteoporosis Pseudoglioma Syndrome.

Area of Science:

• Genetics
• Ophthalmology
• Pediatrics
• Endocrinology

Background:

• Osteoporosis pseudoglioma syndrome (OPS) is a rare autosomal recessive disorder.
• It is characterized by severe early-onset osteoporosis and congenital ocular abnormalities.
• Intellectual disability is also a common feature.

Purpose of the Study:

• To report a case of Osteoporosis pseudoglioma syndrome in a 14-year-old female.
• To highlight the clinical and radiological features.
• To confirm the diagnosis through genetic testing.

Main Methods:

• Clinical examination including ophthalmological assessment.
• Skeletal survey for bone abnormalities.
• Targeted next-generation sequencing (NGS) and Sanger sequencing for genetic variant identification.

Main Results:

• The patient presented with severe osteoporosis, fractures, and typical ocular findings (micropthalmia, microcornea, corneal clouding, vitreo-retinal detachment).
• Skeletal survey revealed fractures and vertebral abnormalities.
• Genetic analysis identified a homozygous pathogenic variant (c.1096G>A/p.V366M) in the relevant gene.

Conclusions:

• This case underscores the importance of early diagnosis of Osteoporosis pseudoglioma syndrome.
• Genetic confirmation is crucial for accurate diagnosis.
• Timely intervention can help prevent further skeletal complications.