Disease/Condition Differentiating Signs/Symptoms Differentiating Tests

Congenital rubella Granular pigmentary changes on funduscopy. Normal electroretinogram (ERG).

These tend to be more granular than the bone
Positive blood test for rubella antibodies confirms
spicules seen in RP, but funduscopy alone cannot
infection.
reliably distinguish the difference. Congenital
deafness may also be present. Other features
include microcephaly, mental retardation,
microphthalmia, and congenital cataracts.

Syphilis Pigmentary changes, evidence of retinal vasculitis Serum Venereal Disease Research Laboratory test
(such as sheathed vessels), and placoid (plate- (VDRL) will be positive.
like) areas of chorioretinal inflammation. Other
Serum rapid plasma regain test (RPR) will be positive.
features include a firm painless chancre at the site
of infection, skin rash, and general symptoms of
fatigue, weight loss, and lymphadenopathy.
In congenital syphilis there may be a rash,
swollen liver, anemia or jaundice, and rhinitis.

Vitamin A deficiency Presents with night blindness and malnutrition. Reversibility of night blindness with high-dose vitamin A
Particularly seen in pregnant women in supplementation.
developing countries.

Ophthalmic artery Sudden-onset, severe, unilateral but painless loss Fundus angiography showing impaired choroidal
occlusion of vision. May have hx of amaurosis fugax. perfusion.
Carotid Doppler scans demonstrating high-risk plaques.

Posterior uveitis A greater degree of inflammation and signs of
chronic inflammation such as posterior synechia,
choroidal infiltrates in active phase, asymmetric
changes, and presence of vascular cuffing
indicating vasculitis.
Elevated WBC/CRP and ESR, nonspecific markers of
inflammation.
Further tests depend on likely underlying cause: Lyme
titer (can cause uveitis in endemic areas); PPD test
(positive for patients with suspected tuberculosis);
antinuclear cytoplasmic antibodies positive in 90% of
patients with Wegener granulomatosis).

Retinal detachment May have hx of risk factors, including ocular Slit-lamp exam and indirect ophthalmoscopy: retinal
trauma, previous detachment, or cataract surgery. detachment; retinal break; vitreoretinal pathology
Hx of sudden-onset central visual loss, possibly (traction or presence of pigment).
with preceding flashes of light. On examination
there is subretinal fluid and cystic degeneration
in an asymmetric pattern.

Diffuse unilateral Usually a unilateral condition; patient may report Funduscopic exam is usually sufficient.
subacute neuroretinitis floaters or conjunctivitis in the early stages with
Scanning laser ophthalmoscope: an infrared laser that is
mild visual loss. More severe visual loss and
good for identifying live worms in young patients.
central scotomas may be evident in later disease.
On funduscopic exam crops of yellow creamy-
appearing choroidal infiltrates can be seen in the
active phase, caused by a nematode worm. Late
changes are indistinguishable from RP.

Autoimmune Symptoms depend on whether rods or cones are Positive serum antiretinal antibodies.
retinopathy predominantly affected and are clinically
indistinguishable from RP. On funduscopic exam
there is retinal vascular atrophy but without
pigmentary changes.

Congenital stationary Relatively normal-appearing fundus; night Decreased b- to a-wave ratio on ERG.
night blindness blindness is nonprogressive. High myopia and
Genetic testing confirms diagnosis.
nystagmus are frequent features.
Fundus albipunctatus Also presents with symptoms of night blindness Elevated final dark-adapted threshold: impaired dark
but on examination there are small white spots on adaptation that recovers with prolonged time in the dark.
the retina.
Genetic testing confirms diagnosis.

Achromatopsia Typically diagnosed at about 6 months of age.
Decreased visual acuity with photophobia and
complete color blindness. Nystagmus becomes
less noticeable with age.
Severely diminished photopic ERG but normal scotopic
ERG.
Genetic testing confirms diagnosis.

X-linked retinoschisis Variable hx can be mild gradual loss of central Decreased b- to a-wave ratio on ERG. Demonstration of
vision or sudden severe visual loss with a foveoschisis on optical coherence tomography
vitreous hemorrhage. Foveoschisis (splitting of
the retinal layers) can appear similar to cystoid
macular edema on funduscopy. Peripheral retinal
schisis may also be seen.

Choroideremia X-linked disorder, so usually only males are Genetic testing confirms diagnosis.
affected. Extensive chorioretinal atrophy with
sparing of the macula until late stages. Normal-
appearing retinal vessels and optic nerve.

Gyrate atrophy Total blindness usually occurring in middle age Elevated blood ornithine levels.
(40-60 years).
Genetic testing confirms diagnosis.
Peripheral areas of chorioretinal degeneration in
gyrate patterns.
Associated with early-onset cataract requiring
surgery by 18-20 years of age.
Diagnosis banding

Penyakit/ kondisi Tanda / Gejala Uji Pembeda

Congenital rubella Perubahan pigmen granular pada Elektroretinogram normal
funduscopy. Ini cenderung lebih granular (ERG).
daripada bone spicules yang terlihat pada Tes darah positif untuk
RP, tetapi funduscopy saja tidak dapat antibodi rubella
membedakan perbedaan. Tuli kongenital mengkonfirmasi infeksi
bisa terjadi . Tanda lain termasuk
mikrosefali, keterbelakangan mental,
microphthalmia, dan katarak kongenital.
Syphilis Perubahan pigmen, bukti vaskulitis retina Serum Venereal Disease
(seperti pembuluh yang berselubung), dan Research Laboratory test
daerah peradangan chorioretinal (seperti (VDRL) akan positif
plat).hal lain termasuk ulkus tanpa rasa Serum rapid plasma regain test
sakit kuat di lokasi infeksi, ruam kulit, dan (RPR) akan positif
gejala umum kelelahan, penurunan berat
badan, dan limfadenopati.
Pada sifilis kongenital mungkin ada ruam,
hati bengkak, anemia atau ikterus, dan
rhinitis.
Vitamin A deficiency Gejala Rabun senja dan malnutrisi. Reversibilitas kebutaan malam
Khususnya terlihat pada wanita hamil di dengan suplementasi vitamin
negara berkembang. A dosis tinggi.
Ophthalmic artery Tiba-tiba, berat, unilateral tetapi Fundus angiography
occlusion kehilangan penglihatan tanpa rasa sakit. menunjukkan gangguan
perfusi koroid.

Carotid Doppler scan

menunjukkan plak berisiko
tinggi.
Posterior uveitis Tingkat peradangan dan tanda Peningkatan WBC / CRP dan
peradangan kronis yang lebih besar ESR, penanda peradangan
seperti sinekia posterior, infiltrat koroidal non-spesifik.
pada fase aktif, perubahan asimetris, dan
adanya cuffing vaskular yang Tes lebih lanjut tergantung
menunjukkan vaskulitis. pada kemungkinan penyebab
yang mendasari: titer Lyme
(dapat menyebabkan uveitis di
daerah endemik); Tes PPD
(positif untuk pasien dengan
dugaan tuberkulosis); antibodi
sitoplasma antinuklear positif
pada 90% pasien dengan
Wegener granulomatosis).
Retinal detachment Mungkin memiliki faktor risiko, termasuk Pemeriksaan slit-lamp dan
trauma okular, pelepasan sebelumnya, ophthalmoscopy tidak
atau operasi katarak. Hx hilangnya langsung: ablasi retina; retina
penglihatan sentral tiba-tiba-tiba, istirahat; patologi vitreoretinal
mungkin dengan kilatan cahaya (traksi atau kehadiran
sebelumnya. Pada pemeriksaan ada cairan pigmen).
 subretinal dan degenerasi kistik dalam
pola asimetris.
Diffuse unilateral Biasanya kondisi unilateral; pasien dapat Pemeriksaan funduskopi
subacute melaporkan floaters atau konjungtivitis biasanya cukup.
neuroretinitis pada tahap awal dengan kehilangan
penglihatan yang ringan. Kehilangan Scanning laser
penglihatan yang lebih parah dan skotoma ophthalmoscope: laser
sentral dapat terlihat jelas pada penyakit inframerah yang baik untuk
selanjutnya. Pada hasil uji funduscopic mengidentifikasi cacing hidup
dari infiltrat koroid yang muncul krem pada pasien muda.
kuning dapat dilihat pada fase aktif, yang
disebabkan oleh cacing nematoda.
Perubahan yang terlambat tidak dapat
dibedakan dari RP.
Autoimmune Gejala tergantung pada apakah batang Positive serum antiretinal
retinopathy atau kerucut didominasi terpengaruh dan antibodies.
secara klinis tidak dapat dibedakan dari
RP. Pada pemeriksaan funduscopic ada
atrofi pembuluh retina tetapi tanpa
perubahan pigmen.
Congenital Fundus relatif normal; rabun senja tidak Penurunan b- rasio gelombang
stationary night progresif. Miopia tinggi dan nystagmus pada ERG.
blindness adalah ciri yang sering. Tes genetik menegaskan
diagnosis.
Fundus dengan gejala rabun senja tetapi pada Ambang akhir adaptasi gelap
albipunctatus pemeriksaan ada bintik-bintik putih kecil akhir: gangguan adaptasi gelap
di retina. yang pulih dengan waktu yang
lama dalam gelap.
Tes genetik menegaskan
diagnosis.