Familial idiopathic macular hole.
OBJECTIVE
To report macular hole formation among siblings within four families.


METHODS
Observational case series.


METHODS
Four families were identified who had macular holes among siblings from within three multiphysician tertiary-care referral retina practices.


RESULTS
In the first family, two sisters in their seventh decade developed Stage 2 macular holes requiring surgical intervention; two male siblings were unaffected. In a second family, three of four siblings were affected, including one brother with a Stage 4 macular hole, one sister with a Stage 3 macular hole, and a third sister with a lamellar macular hole. In a third family, two siblings (one man, one woman) developed macular holes within 1 year of each other. Three years later, the male sibling developed a macular hole in the fellow eye. In the last family, twin sisters developed macular holes (unilateral in one sister, bilateral in the other), and their deceased father may also have had bilateral macular holes.


CONCLUSIONS
The occurrence of macular holes in these four sets of siblings suggests a possible genetic component in the formation of macular holes in these individuals.
Lalin
Sean C
SC
Department of Ophthalmology, Harkness Eye Institute, Columbia University, New York, New York, USA.
Chang
Stanley
S
Flynn
Harry
H
Von Fricken
Manfred
M
Del Priore
Lucian V
LV
D000368:Aged; D004200:Diseases in Twins / Q000235:genetics*; D005260:Female; D005466:Fluorocarbons / Q000627:therapeutic use; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D012167:Retinal Perforations / Q000235:genetics* / Q000601:surgery; D035781:Siblings; D014430:Twins, Monozygotic / Q000235:genetics*; D014821:Vitrectomy
D005466:Fluorocarbons; C042852:perflutren