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Ophthalmic manifestations of tuberous sclerosis.Ann
N Y Acad Sci. 1991;615:17-25.
The ophthalmic
manifestations of tuberous sclerosis include a variety of nonretinal
ophthalmic findings which, other than adenoma sebaceum of the lids,
are uncommon. Approximately half the patients with tuberous
sclerosis have retinal or optic nerve hamartomas; in half of these
patients the hamartomas occur bilaterally. Three basic morphologic
types of retinal hamartomas are recognized: the most common type is
a subtle, relatively flat, smooth-surfaced, salmon-colored,
semitransparent, and circular or oval-shaped lesion located in the
superficial retina, most commonly near or at the posterior pole. The
second type is an easily recognized opaque, white, elevated,
multinodular calcified lesion that is frequently described as
resembling a mulberry. A third type of lesion contains features of
the other two, being calcified and nodular centrally, whereas its
perimeter is semitranslucent, smooth, and salmon-colored. The
hamartomas may be richly vascularized. They generally do not grow,
but over decades some of the lesions may become calcified. Visual
loss from retinal and optic nerve hamartomas rarely occurs. Because
growth and change of the fundus lesions are rare, treatment is not
indicated. Retinoblastoma of the optic nerve and retina is the most
important lesion that must be differentiated from the hamartomas
seen with tuberous sclerosis.
Ocular
changes in patients with tuberous sclerosis.Klin
Oczna. 1994 Oct-Nov;96(10-11):315-7.
The authors
discussed ocular changes observed in 100 children with tuberous
sclerosis. Retinal tumors, typical of this disease, were found in 19
patients (19%). This incidence was higher in older children. Three
types of tumors were observed: a) flat or slightly elevated,
indistinct, salmon-grey colour, b) whitish-yellow, mulberry-like,
located in disc area, c) mixed or intermediate. The authors observed
4 stages of tumors' development: changes in distribution of pigment
in retina, arising of semitranslucent, salmon-grey tumors,
mineralization of tumors-so called intermediate type, mulberry-like
type. Progress from one stage to the next one is slow.
Current
treatment modalities for exudative retinal hamartomas secondary to
tuberous sclerosis: review of the literature.Acta
Ophthalmol Scand. 2007 Mar;85(2):127-32
BACKGROUND:
Retinal hamartoma is a common finding in tuberous sclerosis, but the
symptomatic changes of this lesion have rarely been described. This
evidence-based review evaluated the incidence of symptomatic retinal
hamartoma and compared possible treatment modalities. METHODS: We
carried out a review of the literature using MEDLINE. Older
publications not listed in MEDLINE were obtained from the reference
list of currently published papers. RESULTS: Three observational
case series with a follow-up of up to 34 years included 93 patients
and reported progression from a flat to a more elevated lesion
without visual symptoms in nine patients (9.7%). Additional
symptomatic changes were described in 11 case reports published over
a period of three decades. The symptomatic alterations were caused
by an enlarged tumour with leakage, macular oedema, accumulating
lipoid exudates, serous retinal detachment (n = 8/11) and vitreous
haemorrhage (n = 4/11). Most symptomatic cases involved a retinal
hamartoma type 1 (n = 6/8). Spontaneous resolution of symptomatic
exudative hamartomas occurred in three patients within 4 weeks,
although a delayed resorption of subretinal fluid caused permanent
visual impairment in one patient. Investigational reports described
a slow resorption of subretinal fluid after argon laser
photocoagulation (n = 2), although recurrent laser applications
induced choroidal neovascularization and destruction of the
neurosensory retina (n = 1). A vitrectomy was used to remove a
vitreous haemorrhage in another reported patient. In one case,
complete resorption of subretinal fluid and an increase in visual
acuity was observed within 2 weeks after a single treatment with
photodynamic therapy (PDT). No complications were noted during a
follow-up of 4 years. CONCLUSIONS: Symptomatic changes are very rare
in retinal hamartomas secondary to tuberous sclerosis. Spontaneous
resolution of subretinal fluid may occur within 4 weeks. If a
macular oedema with increasing lipoid exudates persists over a
period of 6 weeks, treatment should be considered. Although previous
reports demonstrated possible visual stabilization after argon laser
photocoagulation, vision-threatening complications can occur.
Current treatment strategies may include PDT based on favourable
anatomical and functional results.
Development
of parafoveal exudates and serous retinal detachment in a pregnant
woman with tuberous sclerosis.Gynecol
Obstet Invest. 2002;53(3):188-90.
The authors
describe an unusual case of a serous detachment of the fovea and
decreased vision with parafoveal exudates with subsequent
spontaneous resolution and return of central vision in a pregnant
patient with tuberous sclerosis. To our knowledge, this is the first
report of an ocular change during gestation in a patient with
tuberous sclerosis.
Ocular
manifestations of tuberous sclerosis.Klin
Oczna. 2001;103(1):47-50.
A case of
tuberous sclerosis in a 5-year old boy with ocular manifestations
and other organ abnormalities (dermatologic, neurologic, renal
pathology) is presented. Ophthalmological changes (astrocytic
hamartomas of the retina, gelatinous tumor, vascular sheathing) are
described. Differential diagnosis is presented.
Hamartomas
of the iris and ciliary epithelium in tuberous sclerosis complex.
Arch Ophthalmol. 2000 May;118(5):711-5.
Astrocytic
hamartomas of the retina are the principal ocular manifestation of
tuberous sclerosis complex. Iris abnormalities are rare in tuberous
sclerosis complex and include focal areas of stromal depigmentation
and atypical colobomata. We describe 2 patients who were found on
histopathological examination to have lesions consistent with
hamartomas of the iris pigment epithelium and ciliary body
epithelium. Iris abnormalities, including pupillary irregularities,
were noted on clinical examination prior to the development of iris
neovascularization in both patients. These observations suggest that
iris abnormalities, including atypical colobomas, may be caused by
hamartomas of the iris pigment epithelium and ciliary epithelium in
some patients with tuberous sclerosis complex. To our knowledge,
hamartomas of tissues derived from the anterior part of the
neuroectodermal optic cup have not been reported in cases of
tuberous sclerosis complex.
Invasive
giant cell astrocytoma of the retina in a patient with tuberous
sclerosis.Ophthalmology.
1999 Mar;106(3):639-42
OBJECTIVE:
To report an unusual case of giant cell astrocytoma of the retina.
DESIGN: Case report. INTERVENTION: A 10-month-old girl with tuberous
sclerosis was found to have bilateral astrocytic hamartomas, the
right eye being prominently involved by elevated and pedunculated
lesions. At 7 years of age, she had posterior subcapsular cataract,
retinal detachment, and subretinal exudation develop in the right
eye. At 12 years of age, her blind, painful right eye had to be
enucleated because of neovascular glaucoma and a spontaneous scleral
perforation. RESULTS: Histopathologic examination showed that the
entire vitreous cavity was filled with a mixture of tumor,
granulation tissue, and necrotic debris. Part of the tumor was
composed of spindle-shaped glial cells. The remainder was composed
of large gemistocytic cells that contained large atypical nuclei and
copious amounts of cytoplasm, which was intensely eosinophilic in
some areas. The tumor contained foci of necrosis and rare mitotic
figures. It had infiltrated the parenchyma of the retrolaminar nerve
and extended to the surgical margin. Areas of unequivocal choroidal
invasion were also identified. The tumor cells were intensely
immunoreactive for neuron-specific enolase and S-100 protein. In
contrast, glial fibrillary acidic protein was only minimally
positive. CONCLUSIONS: The histologic and immunohistochemical
features of this retinal tumor resemble those of subependymal giant
cell astrocytoma, a characteristic lesion in tuberous sclerosis.
Although this unusual giant cell astrocytoma of the retina had
atypical histopathologic features and local aggressive behavior, the
systemic prognosis was excellent.
Tuberous sclerosis in infancy.J
Pediatr Ophthalmol Strabismus. 1997
Nov-Dec;34(6):372-5.
PURPOSE: To
report two infants with tuberous sclerosis who initially were
considered to have retinoblastoma. PATIENTS AND METHODS: An
8-day-old infant was referred with small tumors in the posterior
poles of both eyes. A left microphthalmos with ciliochoroidal
coloboma was present. Computed tomographic (CT) scanning of the
brain showed scattered high-density subependymal foci in the lateral
ventricle thought to be consistent with calcification resulting from
intrauterine viral infection. Argon laser photocoagulation was
applied to lesions in the right eye. Because one tumor was situated
on the retina straddling the coloboma in the left eye, external beam
radiotherapy was administered. A 5-month-old girl presented with a
large mass in a left microphthalmic eye. Calcification was present
on B-scan ultrasonography and CT scanning. Vitreous seeding was
noted to originate from the tumor. The contralateral eye manifested
four small gray translucent retinal tumors in the posterior pole. CT
scan and magnetic resonance imaging (MRI) revealed multiple
periventricular subependymal lesions, including one at the foramen
of Monro. RESULTS: Repeated examinations in the younger child under
anesthesia revealed small new retinal lesions that appeared to
enlarge gradually. She developed intractable seizures and her
electroencephalogram revealed a modified hypsarrhythmia recording. A
careful review of available CT scans and MRI displays suggested the
diagnosis of tuberous sclerosis. The child's most recent examination
under anesthesia revealed multiple newly developed hamartomas. In
the older child, prompt diagnosis was made on the basis of the
intracranial radiologic findings. CONCLUSION: Retinal hamartoma
presentation may vary in infancy. Small, initially fleck-like
gliotic lesions appear to enlarge gradually and eventually may form
gray, translucent tumors. Large astrocytic hamartomas of the retina
associated with tuberous sclerosis may resemble retinoblastoma,
particularly if the mass is large, calcified, and associated with
vitreous seeding. Although ophthalmic presentation was reminiscent
of retinoblastoma in both patients, radiologic evidence of
subependymal hamartomas pathognomic for tuberous sclerosis helped
establish the correct diagnosis. We stress the importance of
intracranial radiologic findings in this regard.
Long-term observation of retinal lesions in tuberous sclerosis.Am
J Ophthalmol. 1995 Mar;119(3):318-24
PURPOSE: To
obtain long-term photographic follow-up of retinal astrocytic
hamartomas in patients with tuberous sclerosis to learn about their
stability or possible growth patterns. METHODS: Sixteen patients
with a confirmed diagnosis of tuberous sclerosis and in whom retinal
astrocytic hamartomas were photographed before 1986 at the Mayo
Clinic underwent a complete ophthalmic examination, and fundus
photographs were taken. The new photographs were compared with
previous photographs, and changes in size, character, or number of
retinal hamartomas were determined. The minimum follow-up period was
five years. RESULTS: A total of 37 astrocytic hamartomas were found.
Follow-up ranged from almost six years to more than 34 years, with
an average of 16 years. Hamartomas in three patients showed
progressive or new calcification. In a fourth patient a retinal
hamartoma appeared to originate from a site that had been previously
photographically documented to be normal. The remaining hamartomas
appeared unchanged over the follow-up period. CONCLUSIONS: Although
most retinal lesions in tuberous sclerosis remain stable, some
become calcified over time. Additionally, new lesions may develop
from previously normal-appearing retina.
Retinal phakomata associated with
cerebral astrocytoma. An incomplete form of Bourneville-Pringle
disease?Ophthalmologica.1993;206(4):209-13.
We report on
a 21-year-old, male patient with unilateral retinal phakomata
associated with histologically proved cerebral astrocytoma. The
patient had presented with bilateral loss of vision and a left-sided
hemiparesis. Ophthalmoscopy showed bilateral optic nerve atrophy,
multiple punched-out areas of depigmentation and astrocytic
hamartomata in the right eye. Despite the absence of classic signs
of Bourneville-Pringle disease such as adenoma sebaceum, epilepsy
and mental retardation, a strongly presumptive diagnosis of tuberous
sclerosis could be made. This unusual case demonstrates that retinal
phakomata can be the solely visible manifestation of
Bourneville-Pringle disease.
Astrocytic
hamartoma in tuberous sclerosis mimicking necrotizing
retinochoroiditis.J
Pediatr Ophthalmol Strabismus. 1982 ;19(6):306-13.
A pale,
elevated peripapillary lesion discovered in a young child with no
family history of phakomatoses, grew larger, caused vitreous
hemorrhage and underwent necrosis. Secondary inflammation developed
in the eye, finally producing rubeosis irides with elevated
intraocular pressure and a blind, painful eye which required
enucleation. Clinically, the lesion was variably diagnosed and
treated as toxoplasmosis and toxocara canis. These diagnoses were
made despite low titres, a negative ELISA test and a normal
eosinophil count. On histopathologic examination, a diagnosis of
toxocara canis was entertained, although no remnants of the organism
could be found in serial sections. Years later, when a family
history of tuberous sclerosis became apparent, a diagnosis of
astrocytic hamartoma of the retina with secondary hemorrhage and
inflammation was made on the basis of re-examination of the
pathologic specimen and special stains. |
