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Familial Exudative Vitreoretinopathy
FAMILIAL EXUDATIVE VITREORETINOPATHY M. M A D I S O N S L U S H E R , M.D., Winston-Salem,
The syndrome of familial exudative vit reoretinopathy was originally described by Criswick and Schepens 1 in 1969 and elaborated on in 1971 by Gow and Oliver 2 who studied a large pedigree. The pur poses of this paper are to suggest that the advanced stage of this disease may occur at an earlier age than had previously been noted and to describe its occurrence in a mother and daughter. CASE REPORTS Case 1—A woman was 7 years old when first examined for eye problems. She had been "blind in the left eye from birth." She had a "congenital, pendular-type nystagmus" and her left eye was exotropic. Vision in her right eye was 6/18 (20/60). She was the product of a full-term pregnancy and had weighed 3348.2 g at birth. No oxygen had been administered during the neonatal period. She was reexamined recently at age 26 years. Visual acuity in her right eye was 6/120 (20/400). Intraocular pressure measured by applanation tonometry was 16 mm Hg bilaterally. She had 40 prism diopters of left exotropia, and contact B-scan ultrasonography of the left eye indicated decreased anteroposterior diameter of the globe and complete retinal detachment behind a cataractous lens. De spite the presence of a posterior subcapsular cataract in the right eye, a severe vitreous fibrosis, marked dragging of the disk, intraretinal and subretinal exudation, and a fibrovascular mass in the temporal retina could be seen (Fig. 1). A fluorescein study of that eye demonstrated an abnormal retinal capillary bed beyond the equator and massive leakage from the fibroproliferative mass in the venous phase of dye transit (Fig. 2). Case 2—The daughter of the patient in Case 1 was examined at the age of 3 years. She was the product of a full-term pregnancy and weighed 3064.5 g at birth. No oxygen had been administered during the neonatal period. She had 45 to 50 prism diopters of exotropia, a congenital pendular nystagmus, normal corneal diameters of 11 mm bilaterally, and intra ocular pressure of approximately 19 mm Hg bilater ally as determined by Schi0tz tonometry. OphthalFrom the Section on Ophthalmology, Department of Surgery, Bowman Gray School of Medicine of Wake Forest University, Winston-Salem, North Car olina. Reprint requests to M. Madison Slusher, M.D., Section on Ophthalmology, Bowman Gray School of Medicine, Winston-Salem, NC 27103. 152
AND W. E. H U T T O N , North
M.D.
Carolina
moscopic examination revealed dragging of each disk (Fig. 3) and intraretinal and subretinal exuda tion. Vitreous changes of early degeneration and band formation were present peripherally in both eyes. Visual acuity could not be tested. DISCUSSION
The resemblance of familial exudative vitreoretinopathy to retrolental fibroplasia is striking, both in clinical appearance and fluoroangiographic findings. This mor phologic similarity was noted by Cris wick and Schepens, 1 and retrolental fi broplasia was the primary differential diagnosis they considered in their cases, although none of their six patients had been born prematurely or had been given supplemental oxygen. Furthermore, ret rolental fibroplasia is apparently not a genetically transmittable disease. Gow and Oliver, 2 citing an extensive pedigree, found no cases of prematurity or oxy gen administration and showed that the exudative vitreoretinopathy in their pa tients was inherited as an autosomal dom inant characteristic. The same pedigree furnished the four cases studied with fluorescein angiography by Canny and Oliver 3 and demonstrated the common denominator of capillary bed obstruction shared by other proliferative retinopathies, particularly, retrolental fibropla sia. This large pedigree also allowed the disease to be divided into three clinical stages, progressing from mild peripheral vitreoretinal changes in Stage I to an advanced Stage III, which included most of the findings in the left eye of our patient in Case 1. Stage I must be differ entiated from mild degrees of retrolental fibroplasia, juvenile retinoschisis, heterotopic macula, and congenital retinal folds. Diseases that have elements of Stage II familial exudative vitreoretinop-
AMERICAN JOURNAL O F OPHTHALMOLOGY 87:152-156, 1979
Fig. 1 (Slusher and Hutton). Case 1. Composite fundus photograph of right eye. Traction of the disk, dragging of disk vessels, subretinal and intraretinal exudation, and a temporal peripheral fibrovascular mass are visible.
Fig. 2 (Slusher and Hutton). Case 1. Fluorescein angiogram suggesting missing capillary bed detail in equatorial area and massive fluorescein leakage from peripheral mass.
Fig. 3 (Slusher and Hutton). Case 2. Right (top) and left (bottom) fundus photographs in Case 2 showing bilateral temporal dragging of disks and exudative retinopathy.
156
AMERICAN JOURNAL OF OPHTHALMOLOGY
athy are peripheral uveitis, Coats' disease, angiomatosis retinae, Eales' disease, and retinoblastoma. Although the connection has not been mentioned in other reports on familial exudative vitreoretinopathy, the same retinal exudative component and vitreous fibrosis have been present in several of our cases of Toxocara canis. Both of our cases of familial exudative vitreoretinopathy prove that the syn drome's visual impairment, nystagmus, and extensive exudative retinal involve ment can occur at an earlier age than had previously been thought. We believe this early involvement requires thorough ex amination of all members of an involved family because prompt retinal cryotherapy may help prevent the total retinal detachment and blindness that occurred in the patient in Case 1. SUMMARY
At age 26 years a woman who had been blind in the left eye from birth had visual acuity of R.E.: 6/18 (20/60); L.E.: 6/120
FEBRUARY, 1979
(20/400), with 40 prism diopters of left exotropia. The left eye showed a de creased anteroposterior diameter of the globe and a complete retinal detachment behind a cataractous lens. The right eye had a posterior subcapsular lens opacity, severe vitreous fibrosis, dragging of the optic disk, and intraretinal and subretinal exudation with a flbrovascular mass in the temporal retina. The patient's 3-year-old daughter had 45 to 50 prism diopters of exotropia, a pendular nystagmus with intraretinal and subretinal dragging of each disk, and early degeneration and band formation in the periphery of each fundus. REFERENCES
1. Criswick, V. G., and Schepens, C. L.: Familial exudative vitreoretinopathy. Am. J. Ophthalmol. 68:578, 1969. 2. Gow, J., and Oliver, G. L.: Familial exudative vitreoretinopathy. An expanded view. Arch Oph thalmol. 86:150, 1971. 3. Canny, C. L. B., and Oliver, G. L.: Fluorescein angiographic findings in familial exudative vitreo retinopathy. Arch. Ophthalmol. 94:1114, 1976.
The syndrome of familial exudative vit reoretinopathy was originally described by Criswick and Schepens 1 in 1969 and elaborated on in 1971 by Gow and Oliver 2 who studied a large pedigree. The pur poses of this paper are to suggest that the advanced stage of this disease may occur at an earlier age than had previously been noted and to describe its occurrence in a mother and daughter. CASE REPORTS Case 1—A woman was 7 years old when first examined for eye problems. She had been "blind in the left eye from birth." She had a "congenital, pendular-type nystagmus" and her left eye was exotropic. Vision in her right eye was 6/18 (20/60). She was the product of a full-term pregnancy and had weighed 3348.2 g at birth. No oxygen had been administered during the neonatal period. She was reexamined recently at age 26 years. Visual acuity in her right eye was 6/120 (20/400). Intraocular pressure measured by applanation tonometry was 16 mm Hg bilaterally. She had 40 prism diopters of left exotropia, and contact B-scan ultrasonography of the left eye indicated decreased anteroposterior diameter of the globe and complete retinal detachment behind a cataractous lens. De spite the presence of a posterior subcapsular cataract in the right eye, a severe vitreous fibrosis, marked dragging of the disk, intraretinal and subretinal exudation, and a fibrovascular mass in the temporal retina could be seen (Fig. 1). A fluorescein study of that eye demonstrated an abnormal retinal capillary bed beyond the equator and massive leakage from the fibroproliferative mass in the venous phase of dye transit (Fig. 2). Case 2—The daughter of the patient in Case 1 was examined at the age of 3 years. She was the product of a full-term pregnancy and weighed 3064.5 g at birth. No oxygen had been administered during the neonatal period. She had 45 to 50 prism diopters of exotropia, a congenital pendular nystagmus, normal corneal diameters of 11 mm bilaterally, and intra ocular pressure of approximately 19 mm Hg bilater ally as determined by Schi0tz tonometry. OphthalFrom the Section on Ophthalmology, Department of Surgery, Bowman Gray School of Medicine of Wake Forest University, Winston-Salem, North Car olina. Reprint requests to M. Madison Slusher, M.D., Section on Ophthalmology, Bowman Gray School of Medicine, Winston-Salem, NC 27103. 152
AND W. E. H U T T O N , North
M.D.
Carolina
moscopic examination revealed dragging of each disk (Fig. 3) and intraretinal and subretinal exuda tion. Vitreous changes of early degeneration and band formation were present peripherally in both eyes. Visual acuity could not be tested. DISCUSSION
The resemblance of familial exudative vitreoretinopathy to retrolental fibroplasia is striking, both in clinical appearance and fluoroangiographic findings. This mor phologic similarity was noted by Cris wick and Schepens, 1 and retrolental fi broplasia was the primary differential diagnosis they considered in their cases, although none of their six patients had been born prematurely or had been given supplemental oxygen. Furthermore, ret rolental fibroplasia is apparently not a genetically transmittable disease. Gow and Oliver, 2 citing an extensive pedigree, found no cases of prematurity or oxy gen administration and showed that the exudative vitreoretinopathy in their pa tients was inherited as an autosomal dom inant characteristic. The same pedigree furnished the four cases studied with fluorescein angiography by Canny and Oliver 3 and demonstrated the common denominator of capillary bed obstruction shared by other proliferative retinopathies, particularly, retrolental fibropla sia. This large pedigree also allowed the disease to be divided into three clinical stages, progressing from mild peripheral vitreoretinal changes in Stage I to an advanced Stage III, which included most of the findings in the left eye of our patient in Case 1. Stage I must be differ entiated from mild degrees of retrolental fibroplasia, juvenile retinoschisis, heterotopic macula, and congenital retinal folds. Diseases that have elements of Stage II familial exudative vitreoretinop-
AMERICAN JOURNAL O F OPHTHALMOLOGY 87:152-156, 1979
Fig. 1 (Slusher and Hutton). Case 1. Composite fundus photograph of right eye. Traction of the disk, dragging of disk vessels, subretinal and intraretinal exudation, and a temporal peripheral fibrovascular mass are visible.
Fig. 2 (Slusher and Hutton). Case 1. Fluorescein angiogram suggesting missing capillary bed detail in equatorial area and massive fluorescein leakage from peripheral mass.
Fig. 3 (Slusher and Hutton). Case 2. Right (top) and left (bottom) fundus photographs in Case 2 showing bilateral temporal dragging of disks and exudative retinopathy.
156
AMERICAN JOURNAL OF OPHTHALMOLOGY
athy are peripheral uveitis, Coats' disease, angiomatosis retinae, Eales' disease, and retinoblastoma. Although the connection has not been mentioned in other reports on familial exudative vitreoretinopathy, the same retinal exudative component and vitreous fibrosis have been present in several of our cases of Toxocara canis. Both of our cases of familial exudative vitreoretinopathy prove that the syn drome's visual impairment, nystagmus, and extensive exudative retinal involve ment can occur at an earlier age than had previously been thought. We believe this early involvement requires thorough ex amination of all members of an involved family because prompt retinal cryotherapy may help prevent the total retinal detachment and blindness that occurred in the patient in Case 1. SUMMARY
At age 26 years a woman who had been blind in the left eye from birth had visual acuity of R.E.: 6/18 (20/60); L.E.: 6/120
FEBRUARY, 1979
(20/400), with 40 prism diopters of left exotropia. The left eye showed a de creased anteroposterior diameter of the globe and a complete retinal detachment behind a cataractous lens. The right eye had a posterior subcapsular lens opacity, severe vitreous fibrosis, dragging of the optic disk, and intraretinal and subretinal exudation with a flbrovascular mass in the temporal retina. The patient's 3-year-old daughter had 45 to 50 prism diopters of exotropia, a pendular nystagmus with intraretinal and subretinal dragging of each disk, and early degeneration and band formation in the periphery of each fundus. REFERENCES
1. Criswick, V. G., and Schepens, C. L.: Familial exudative vitreoretinopathy. Am. J. Ophthalmol. 68:578, 1969. 2. Gow, J., and Oliver, G. L.: Familial exudative vitreoretinopathy. An expanded view. Arch Oph thalmol. 86:150, 1971. 3. Canny, C. L. B., and Oliver, G. L.: Fluorescein angiographic findings in familial exudative vitreo retinopathy. Arch. Ophthalmol. 94:1114, 1976.