Familial primary calcific band-shaped keratopathy with late onset systemic disease: a case series and review of the literature

Abstract

Background: Familial calcific band-shaped keratopathy (BSK) is a very rare disease, with no underlying cause. There is no underlying disease in this form of the disease. This article introduces a family with seven children, three of whom were diagnosed with familial primary calcific BSK. One of them developed a systemic disease 38 years after ocular manifestation.

Case presentation: In this case report, three Iranian siblings from a family with familial calcific band-shaped keratopathy (BSK) are introduced. Systemic and ocular examinations performed on these patients indicated the occurrence of chronic kidney disease in the older child, a 41-year-old woman, 38 years after ocular manifestation. The examinations conducted on the other two siblings revealed no pathological findings. The 41-year-old sister and 37-year-old brother underwent unilateral deep anterior lamellar keratoplasty (DALK), while the 33-year-old sister underwent bilateral superficial keratectomy (SK).

Conclusion: Considering the late onset of systemic disease in one of the siblings diagnosed with familial calcific band-shaped keratopathy (BSK), it is crucial to emphasize the necessity of long-term follow-up for these patients and their families.

Keywords: Band shaped keratopathy; Case report; DALK; Keratoplasty.

Fig. 1

Preoperative slit photographs of three Iranian siblings (A, B 41 years old sister; OD, OS), (C, D 37 years old brother; OD, OS), (E, F 33 years old sister; OD, OS)

Fig. 2

Anterior Segment OCT (AS-OCT) of three Iranian siblings (right eyes); superficial deposition of dens materials (A 41 years old sister; OD), (B 37 years old brother; OD), (C 33 years old sister; OD)

Fig. 3

Postoperative slit photos (A 41 years old sister; OD), (B 37 years old brother; OD), (C, D 33 years old sister; OD, OS)

Fig. 4

Corneal histopathological slides of patients (magnification × 100, H/E staining), (A 41 years old sister), (B 37 years old brother). Arrows show the location of calcium deposits (superficial stroma and extracellularly)

Fig. 5

Pedigree of family