Congenital stromal corneal dystrophy (CSCD) is an autosomal dominant disease characterized by diffuse, bilateral, corneal clouding with flake-like whitish opacities throughout the stroma. These small flakes and spots are present at birth or shortly after birth and are thought to become more numerous with age, but the entity is said to be slowly progressive. The presentation is severe enough to cause significant vision loss and some patients present with strabismus or nystagmus [1], [2], [3]. Previous DNA linkage analyses have identified decorine (DCN) mutations on chromosome 12q22 as the causative gene of CSCD. To date, sequence analysis has identified five heterozygous deletions [c.967delT (p.Ser323Leufs*5), c.941delC (p.Pro314Hisfs*14), c.947delG (p.Gly316Aspfs*12), c. c.962delA (p.Lys321Argfs*7) and c.948delA (p.His317Thrf*11)] that are predicted to introduce the same premature stop codon, causing the deletion of 33 amino acids in the C-terminal end of the decorin protein [2], [4], [5]. The truncated decorin is present in CSCD corneas and the accumulation appears to contribute to the stromal opacities [6]. Another heterozygous missense mutation [c.1036T.G (p.Cys346Gly)] has been found in a milder form of CSCD [7].

CSC is an extremely rare disease with only 8 families reported in the literature [2], [4], [5] in which the clinical manifestations are quite consistent with some minor variations in the density of the opacities. Epithelium, Descemet's membrane and endothelium were not affected in most of them and the anterior chamber structures were also unremarkable [2]. Most individuals undergo penetrating keratoplasty (PK) in late adolescence with good results and there are only five cases treated with deep anterior lamellar keratoplasty (DALK) in the literature [8], [9], [10], [11]. The aim of this paper is to present the 9th familial case series of CSCD and the largest series treated with DALK in order to improve the knowledge of this rare pathology and clarify the indications and timing of treatment.